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Marcy MacDonald

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Paola Conforti; Elisa Fossale; Marcy E MacDonald; Cesare Mutti; Morgan Thompson; Marta Valenza; Scott Zeitlin; Chiara Zuccato; Stefano Camnasio; Elena Cattaneo
Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death.
Tiffany C Hadzi; Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; Marcy E MacDonald; Richard H Myers; Jayalakshmi Mysore; L Adrienne Cupples; Tammy Gillis; James F Gusella; Jean-Paul Vonsattel
Assessment of cortical and striatal involvement in 523 Huntington disease brains.
John F Staropoli; Winnie Xin; Jose E Abdenur; Rosemary Barone; Scott H Coppel; Mark J Daly; Naser Elbalalesy; Amel Karaa; Andrew Kirby; Karen B Leydiker; Elaine T Lim; Marcy E MacDonald; Stephen G Romansky; Katherine B Sims; Susan L Cotman
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

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All Publications

2013: Paola Conforti; Elisa Fossale; Marcy E MacDonald; Cesare Mutti; Morgan Thompson; Marta Valenza; Scott Zeitlin; Chiara Zuccato; Stefano Camnasio; Elena Cattaneo
Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death.
Neurobiology of disease 2013;50():160-70.
2012: Tiffany C Hadzi; Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; Marcy E MacDonald; Richard H Myers; Jayalakshmi Mysore; L Adrienne Cupples; Tammy Gillis; James F Gusella; Jean-Paul Vonsattel
Assessment of cortical and striatal involvement in 523 Huntington disease brains.
Neurology 2012;79(16):1708-15.
2012: John F Staropoli; Winnie Xin; Jose E Abdenur; Rosemary Barone; Scott H Coppel; Mark J Daly; Naser Elbalalesy; Amel Karaa; Andrew Kirby; Karen B Leydiker; Elaine T Lim; Marcy E MacDonald; Stephen G Romansky; Katherine B Sims; Susan L Cotman
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
American journal of human genetics 2012;91(1):202-8.
2012: Eliana Marisa Ramos; Antonia Ratti; Vincenzo Silani; Nicola Ticozzi; Isabel Alonso; Robert H Brown; Cinzia Gellera; Tammy Gillis; James F Gusella; Pamela Keagle; Ashley Lyn Leclerc; Patrick Lowe; Marcy E MacDonald; Jayalakshmi Mysore; John E Landers
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2012;13(3):265-9.
2012: Colby Chiang; Mark J Daly; Carl Ernst; Richard L M Faull; James F Gusella; Ira M Hall; Carrie Hanscom; Adrian Heilbut; Jessie C Jacobsen; Andrew Kirby; Charles Lee; Amelia M Lindgren; Marcy E MacDonald; C McLaughlan; Ryan E Mills; Cynthia C Morton; Toshiro K Ohsumi; Suzanne J Reid; Skye R Rudiger; Yiping Shen; Russell G Snell; C Simon Bawden; Ian Blumenthal; Mark L Borowsky; Michael E Talkowski
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Nature genetics 2012;44(4):390-7, S1.
2012: Jong-Min Lee; Diane Lucente; Marcy E MacDonald; Karen Marder; Russell L Margolis; Elizabeth McCusker; Patrick J Morrison; Richard H Myers; Jayalakshmi Srinidhi Mysore; Martha Nance; Andrea Novelletto; Eliana Marisa Ramos; Herminia D Rosas; Christopher A Ross; Marie-Helene Saint-Hilaire; Jorge Sequeiros; Ferdinando Squitieri; Oksana Suchowersky; Ronald J Trent; Andrea Zanko; Ruth K Abramson; Tetsuo Ashizawa; Carmen Ayuso; Stefano Di Donato; Samuel Frank; Marina Frontali; Tammy Gillis; Estrella Gomez-Tortosa; Annamaria Griguoli; Madaline B Harrison; Michael R Hayden; Steven M Hersch; Randi Jones; James F Gusella
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
American journal of human genetics 2012;90(3):434-44.
2012: J-M Lee; D Lucente; Marcy E MacDonald; K Marder; Russell L Margolis; E McCusker; P Morrison; R H Myers; J S Mysore; M Nance; A Novelletto; S Orobello; Jane S Paulsen; E M Ramos; H D Rosas; Christopher A Ross; M H Saint-Hilaire; J Sequeiros; F Squitieri; O Suchowersky; R J A Trent; S C Warby; A Zanko; R K Abramson; T Ashizawa; C Ayuso; S Di Donato; S Frank; M Frontali; T Gillis; E Gomez-Tortosa; J F Gusella; M B Harrison; Michael R Hayden; Steven M Hersch; R Jones; G B Landwehrmeyer; J-H Lee
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology 2012;78(10):690-5.
2011: Elisa Fossale; James Gusella; Isaac S Kohane; Marcy E MacDonald; Ihn Sik Seong; Toshi Shioda; Vanessa C Wheeler; Kathryn R Coser; Jong-Min Lee
Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative.
Human molecular genetics 2011;20(21):4258-67.
2011: Jessie C Jacobsen; Isaac S Kohane; Kathryn R Coser; Gillian C Gregory; James Gusella; Marcy E MacDonald; Vidya Murthy; Ihn Sik Seong; Toshi Shioda; Morgan N Thompson; Juliana M Woda; Jong-Min Lee
HD CAG-correlated gene expression changes support a simple dominant gain of function.
Human molecular genetics 2011;20(14):2846-60.
2011: Surya A Reis; Morgan N Thompson; Jong-Min Lee; Elisa Fossale; Hyung-Hwan Kim; James K Liao; Michael A Moskowitz; Stanley Y Shaw; Linda Dong; Stephen J Haggarty; Marcy E MacDonald; Ihn Sik Seong
Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis.
Human molecular genetics 2011;20(12):2344-55.
2011: Michael A Myre; Amanda L Lumsden; Morgan N Thompson; Wilma Wasco; Marcy E MacDonald; James Gusella
Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.
PLoS genetics 2011;7(4):e1002052.
2011: Vishal M Gohil; Nicolas Offner; James A Walker; Sunil A Sheth; Elisa Fossale; James Gusella; Marcy E MacDonald; Christian Neri; Vamsi K Mootha
Meclizine is neuroprotective in models of Huntington's disease.
Human molecular genetics 2011;20(2):294-300.
2011: Yi Cao; John F Staropoli; Sunita Biswas; Janice A Espinola; Marcy E MacDonald; Jong-Min Lee; Susan L Cotman
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
PloS one 2011;6(2):e17118.
2010: Marta Valenza; Valerio Leoni; Joanna M Karasinska; Lara Petricca; Jianjia Fan; Jeffrey Carroll; Mahmoud A Pouladi; Elisa Fossale; Huu-Phuc Nguyen; Olaf Riess; Marcy E MacDonald; Cheryl L Wellington; Stefano DiDonato; Michael R Hayden; Elena Cattaneo
Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2010;30(32):10844-50.
2010: Jessie C Jacobsen; C Simon Bawden; Skye R Rudiger; Clive J McLaughlan; Suzanne J Reid; Henry J Waldvogel; Marcy E MacDonald; James Gusella; Simon K Walker; Jennifer M Kelly; Graham C Webb; Richard L M Faull; Mark I Rees; Russell G Snell
An ovine transgenic Huntington's disease model.
Human molecular genetics 2010;19(10):1873-82.
2010: Roy H Perlis; Jordan W Smoller; Jayalakshmi Mysore; Mei Sun; Tammy Gillis; Shaun Purcell; Marcella Rietschel; Markus M Nöthen; Stephanie Witt; Wolfgang Maier; Dan V Iosifescu; Patrick Sullivan; A John Rush; Maurizio Fava; Hans C Breiter; Marcy E MacDonald; James Gusella
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.
The American journal of psychiatry 2010;167(5):574-9.
2010: Ihn Sik Seong; Juliana M Woda; Ji-Joon Song; Alejandro Lloret; Priyanka D Abeyrathne; Caroline J Woo; Gillian Gregory; Jong-Min Lee; Vanessa C Wheeler; Thomas Walz; Robert E Kingston; James Gusella; Ronald A Conlon; Marcy E MacDonald
Huntingtin facilitates polycomb repressive complex 2.
Human molecular genetics 2010;19(4):573-83.
2010: Jong-Min Lee; Jie Zhang; Andrew I Su; John R Walker; Tim Wiltshire; Kihwa Kang; Ella Dragileva; Tammy Gillis; Edith T Lopez; Marie-Josee Boily; Michel Cyr; Isaac Kohane; James Gusella; Marcy E MacDonald; Vanessa C Wheeler
A novel approach to investigate tissue-specific trinucleotide repeat instability.
BMC systems biology 2010;4():29.
2009: Liliana Menalled; Bassem F El-Khodor; Monica Patry; Mayte Suárez-Fariñas; Samantha J Orenstein; Benjamin Zahasky; Christina Leahy; Vanessa Wheeler; X William Yang; Marcy E MacDonald; A Jennifer Morton; Gillian P Bates; Janet Leeds; Larry Park; David Howland; Ethan Signer; Allan Tobin; Daniela Brunner
Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models.
Neurobiology of disease 2009;35(3):319-36.
2009: Alisia Carnemolla; Elisa Fossale; Elena Agostoni; Silvia Michelazzi; Raffaella Calligaris; Luca De Maso; Giannino Del Sal; Marcy E MacDonald; Francesca Persichetti
Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease.
The Journal of biological chemistry 2009;284(27):18167-73.
2009: Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; L Adrienne Cupples; Vanessa Wheeler; Marcy E MacDonald; James Gusella; Richard H Myers
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
American journal of medical genetics. Part A 2009;149A(7):1375-81.
2009: James Gusella; Marcy E MacDonald
Huntington's disease: the case for genetic modifiers.
Genome medicine 2009;1(8):80.
2009: Ella Dragileva; Audrey Hendricks; Allison Teed; Tammy Gillis; Edith T Lopez; Errol C Friedberg; Raju Kucherlapati; Winfried Edelmann; Kathryn L Lunetta; Marcy E MacDonald; Vanessa C Wheeler
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes.
Neurobiology of disease 2009;33(1):37-47.
2008: Christopher F McNicoll; Jeanne C Latourelle; Marcy E MacDonald; Mark F Lew; Oksana Suchowersky; Christine Klein; Lawrence I Golbe; Margery H Mark; John H Growdon; G Frederick Wooten; Ray L Watts; Mark Guttman; Brad A Racette; Joel S Perlmutter; Anwar Ahmed; Holly A Shill; Carlos Singer; Marie H Saint-Hilaire; Tiffany Massood; Karen W Huskey; Anita L DeStefano; Tammy Gillis; Jayalakshmi Mysore; Stefano Goldwurm; Gianni Pezzoli; Kenneth B Baker; Ilia Itin; Irene Litvan; Garth Nicholson; Alastair Corbett; Martha Nance; Edward Drasby; Stuart Isaacson; David J Burn; Patrick F Chinnery; Peter P Pramstaller; Jomana Al-Hinti; Anette T Moller; Karen Ostergaard; Scott J Sherman; Richard Roxburgh; Barry Snow; John T Slevin; Franca Cambi; James Gusella; Richard H Myers
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Movement disorders : official journal of the Movement Disorder Society 2008;23(11):1596-601.
2008: Jane S Paulsen; Douglas R Langbehn; Julie C Stout; Elizabeth H Aylward; Christopher A Ross; Martha Nance; Mark Guttman; S Johnson; Marcy E MacDonald; Leigh J Beglinger; Kevin Duff; Elise Kayson; K Biglan; Ira Shoulson; David Oakes; Michael R Hayden
Detection of Huntington's disease decades before diagnosis: the Predict-HD study.
Journal of neurology, neurosurgery, and psychiatry 2008;79(8):874-80.
2008: Chiara Zuccato; Manuela Marullo; Paola Conforti; Marcy E MacDonald; Marzia Tartari; Elena Cattaneo
Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease.
Brain pathology (Zurich, Switzerland) 2008;18(2):225-38.
2008: Anne W Higgins; Fowzan S Alkuraya; Amy F Bosco; Kerry K Brown; Gail A P Bruns; Diana J Donovan; Robert Eisenman; Yanli Fan; Chantal G Farra; Heather L Ferguson; James Gusella; David J Harris; Steven R Herrick; Chantal Kelly; Hyung-Goo Kim; Shotaro Kishikawa; Bruce Korf; Shashikant Kulkarni; Eric Lally; Natalia T Leach; Emma Lemyre; Janine Lewis; Azra H Ligon; Weining Lu; Richard L Maas; Marcy E MacDonald; Steven D P Moore; Roxanna E Peters; Bradley J Quade; Fabiola Quintero-Rivera; Irfan Saadi; Yiping Shen; Jay Shendure; Robin E Williamson; Cynthia C Morton
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
American journal of human genetics 2008;82(3):712-22.
2008: Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James Gusella
Disruption of neurexin 1 associated with autism spectrum disorder.
American journal of human genetics 2008;82(1):199-207.
2007: James Gusella; Marcy E MacDonald
Expanding the notion of disease in Huntington's disease.
Biological psychiatry 2007;62(12):1340.
2007: Vanessa C Wheeler; Francesca Persichetti; S M McNeil; Jayalakshmi Mysore; S S Mysore; Marcy E MacDonald; Richard H Myers; James Gusella; Nancy S Wexler
Factors associated with HD CAG repeat instability in Huntington disease.
Journal of medical genetics 2007;44(11):695-701.
2007: Jong-Min Lee; Elena V Ivanova; Ihn Sik Seong; Tanya Cashorali; Isaac Kohane; James Gusella; Marcy E MacDonald
Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism.
PLoS genetics 2007;3(8):e135.
2007: Chiara Zuccato; Nikolai Belyaev; Paola Conforti; Lezanne Ooi; Marzia Tartari; Evangelia Papadimou; Marcy E MacDonald; Elisa Fossale; Scott Zeitlin; Noel Buckley; Elena Cattaneo
Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(26):6972-83.
2007: J Michael Andresen; Javier Gayán; Luc Djoussé; Simone Roberts; Denise Brocklebank; Stacey Cherny; Lon R Cardon; James Gusella; Marcy E MacDonald; Richard H Myers; David E Housman; Nancy S Wexler
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
Annals of human genetics 2007;71(Pt 3):295-301.
2007: James Gusella; Marcy E MacDonald
Genetic criteria for Huntington's disease pathogenesis.
Brain research bulletin 2007;72(2-3):78-82.
2007: Hyung-Goo Kim; Anne W Higgins; Steven R Herrick; Shotaro Kishikawa; Linda Nicholson; Kerstin Kutsche; Azra H Ligon; David J Harris; Marcy E MacDonald; Gail A P Bruns; Cynthia C Morton; Bradley J Quade; James Gusella
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
American journal of medical genetics. Part A 2007;143(2):107-11.
2006: J B Wilk; J E Tobin; O Suchowersky; H A Shill; Christine Klein; G F Wooten; M F Lew; M H Mark; M Guttman; Ray L Watts; Carlos Singer; John H Growdon; J C Latourelle; M H Saint-Hilaire; A L DeStefano; R Prakash; S Williamson; C J Berg; M Sun; S Goldwurm; G Pezzoli; B A Racette; J S Perlmutter; A Parsian; K B Baker; M L Giroux; I Litvan; P P Pramstaller; G Nicholson; David J Burn; P F Chinnery; Peter Vieregge; J T Slevin; F Cambi; Marcy E MacDonald; James Gusella; Richard H Myers; Lawrence I Golbe
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
Neurology 2006;67(12):2206-10.
2006: Yu Zhang; Blair R Leavitt; Jeremy M van Raamsdonk; Ioannis Dragatsis; Dan Goldowitz; Marcy E MacDonald; Michael R Hayden; Robert M Friedlander
Huntingtin inhibits caspase-3 activation.
The EMBO journal 2006;25(24):5896-906.
2006: Shotaro Kishikawa; Jian-Liang Li; Tammy Gillis; Michael M Hakky; Simon Warby; Michael R Hayden; Marcy E MacDonald; Richard H Myers; James Gusella
Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease.
Neurobiology of disease 2006;24(2):280-5.
2006: James Gusella; Marcy E MacDonald
Huntington's disease: seeing the pathogenic process through a genetic lens.
Trends in biochemical sciences 2006;31(9):533-40.
2006: Yi Cao; Janice A Espinola; Elisa Fossale; Ashish C Massey; Ana Maria Cuervo; Marcy E MacDonald; Susan L Cotman
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.
The Journal of biological chemistry 2006;281(29):20483-93.
2006: Stephen M Altmann; Andrey Muryshev; Elisa Fossale; Michele M Maxwell; Fran Norflus; Jonathan Fox; Steven M Hersch; Anne B Young; Marcy E MacDonald; Ruben Abagyan; Aleksey G Kazantsev
Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells.
Chemistry & biology 2006;13(7):765-70.
2006: Paolo Guidetti; Gillian P Bates; Graham Kyrenia Rona; Michael R Hayden; Blair R Leavitt; Marcy E MacDonald; Elizabeth J Slow; Vanessa C Wheeler; Ben Woodman; Robert Schwarcz
Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice.
Neurobiology of disease 2006;23(1):190-7.
2006: Alejandro Lloret; Ella Dragileva; Allison Teed; Janice A Espinola; Elisa Fossale; Tammy Gillis; Edith Lopez; Richard H Myers; Marcy E MacDonald; Vanessa C Wheeler
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.
Human molecular genetics 2006;15(12):2015-24.
2006: Mei Sun; Jeanne C Latourelle; G Frederick Wooten; Mark F Lew; Christine Klein; Holly A Shill; Lawrence I Golbe; Margery H Mark; Brad A Racette; Joel S Perlmutter; Abbas Parsian; Mark Guttman; Garth Nicholson; Gang Xu; Jemma B Wilk; Marie H Saint-Hilaire; Anita L DeStefano; Ranjana Prakash; Sally Williamson; Oksana Suchowersky; Nancy Labelle; John H Growdon; Carlos Singer; Ray L Watts; Stefano Goldwurm; Gianni Pezzoli; Kenneth B Baker; Peter P Pramstaller; David J Burn; Patrick F Chinnery; Scott Sherman; Peter Vieregge; Irene Litvan; Tammy Gillis; Marcy E MacDonald; Richard H Myers; James Gusella
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Archives of neurology 2006;63(6):826-32.
2006: Alice S Chen-Plotkin; Ghazaleh Sadri-Vakili; George J Yohrling; Melissa W Braveman; Caroline L Benn; Kelly E Glajch; Derek P DiRocco; Laurie A Farrell; Dimitri Krainc; Silvia Gines; Marcy E MacDonald; Jang-Ho Cha
Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease.
Neurobiology of disease 2006;22(2):233-41.
2006: Anthony J Hickey; Heather L Chotkowski; Navjot Singh; Jeffrey G Ault; Christopher A Korey; Marcy E MacDonald; Robert L Glaser
Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.
Genetics 2006;172(4):2379-90.
2006: Kiyomi Y Araki; Satoshi Fujimura; Marcy E MacDonald; Pradeep G Bhide
Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors.
Developmental neuroscience 2006;28(6):518-27.
2006: Wenqi Zeng; Tammy Gillis; Michael Hakky; Luc Djoussé; Richard H Myers; Marcy E MacDonald; James Gusella
Genetic analysis of the GRIK2 modifier effect in Huntington's disease.
BMC neuroscience 2006;7():62.
2006: Jian-Liang Li; Michael R Hayden; Simon Warby; Alexandra Durr; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Ferdinando Squitieri; Luigi Frati; Estrella Gómez-Tortosa; Carmen Ayuso García; Oksana Suchowersky; Mary Lou Klimek; Ronald J A Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Jane S Paulsen; Randi Jones; Tetsuo Ashizawa; Alice Lazzarini; Vanessa C Wheeler; Ranjana Prakash; Gang Xu; Luc Djoussé; Jayalakshmi Srinidhi Mysore; Tammy Gillis; Michael Hakky; L Adrienne Cupples; Marie H Saint-Hilaire; Jang-Ho Cha; Steven M Hersch; John B Penney; Madaline B Harrison; Susan L Perlman; Andrea Zanko; Ruth K Abramson; Anthony J Lechich; Ayana Duckett; Karen Marder; P Michael Conneally; James Gusella; Marcy E MacDonald; Richard H Myers
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.
BMC medical genetics 2006;7():71.
2005: Charlie C Pontikis; Susan L Cotman; Marcy E MacDonald; Jonathan D Cooper
Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease.
Neurobiology of disease 2005;20(3):823-36.
2005: Ihn Sik Seong; Elena Ivanova; Jong-Min Lee; Yeun Su Choo; Elisa Fossale; MaryAnne Anderson; James Gusella; Jason M Laramie; Richard H Myers; Mathieu Lesort; Marcy E MacDonald
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
Human molecular genetics 2005;14(19):2871-80.
2005: H G Kim; Steven R Herrick; E Lemyre; Shotaro Kishikawa; J A Salisz; S Seminara; Marcy E MacDonald; G A P Bruns; Cynthia C Morton; Bradley J Quade; James Gusella
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Journal of medical genetics 2005;42(8):666-72.
2005: Wen-Qi Zeng; Eiman Al-Yamani; James S Acierno; Susan A Slaugenhaupt; Tammy Gillis; Marcy E MacDonald; Pinar T Ozand; James Gusella
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
American journal of human genetics 2005;77(1):16-26.
2005: Todd W Miller; Chun Zhou; Silvia Gines; Marcy E MacDonald; Nicholas D Mazarakis; Gillian P Bates; James S Huston; Anne Messer
A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease.
Neurobiology of disease 2005;19(1-2):47-56.
2005: Juliana M Woda; Teresa Calzonetti; Paige Hilditch-Maguire; Mabel P Duyao; Ronald A Conlon; Marcy E MacDonald
Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo.
BMC developmental biology 2005;5():17.
2005: Jin Wang; Silvia Gines; Marcy E MacDonald; James Gusella
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
BMC neuroscience 2005;6():1.
2004: Elisa Fossale; Pavlina Wolf; Janice A Espinola; Tanya Lubicz-Nawrocka; Allison Teed; Hanlin Gao; Dorotea Rigamonti; Elena Cattaneo; Marcy E MacDonald; Susan L Cotman
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis.
BMC neuroscience 2004;5():57.
2004: Russell L Margolis; Susan E Holmes; Adam Rosenblatt; Lisa M Gourley; Elizabeth O'Hearn; Christopher A Ross; William K Seltzer; Ruth H Walker; Tetsuo Ashizawa; Astrid Rasmussen; Michael R Hayden; Elisabeth W Almqvist; Juliette Harris; Stanley Fahn; Marcy E MacDonald; Jayalakshmi Mysore; Takayoshi Shimohata; Shoji Tsuji; Nicholas T Potter; Kazuhiro Nakaso; Yoshiki Adachi; Kenji Nakashima; Thomas D Bird; Amanda Krause; Penny Greenstein
Huntington's Disease-like 2 (HDL2) in North America and Japan.
Annals of neurology 2004;56(5):670-4.
2004: Yeun Su Choo; Gail Johnson; Marcy E MacDonald; Peter J Detloff; Mathieu Lesort
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release.
Human molecular genetics 2004;13(14):1407-20.
2004: Laurent Gauthier; Bénédicte Charrin; Maria Borrell-Pagès; Jim P Dompierre; Hélène Rangone; Fabrice P Cordelières; Jan De Mey; Marcy E MacDonald; Volkmar Lessmann; Sandrine Humbert; Frédéric Saudou
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.
Cell 2004;118(1):127-38.
2004: Luc Djoussé; Beth Knowlton; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Alexandra Durr; Catherine Dode; Patrick J Morrison; Andrea Novelletto; Marina Frontali; Ronald J Trent; Elizabeth A McCusker; Estrella Gómez-Tortosa; David Mayo Cabrero; Randi Jones; Andrea Zanko; Martha Nance; Ruth K Abramson; Oksana Suchowersky; Jane S Paulsen; Madaline B Harrison; Qiong Yang; L Adrienne Cupples; Jayalakshmi Mysore; James Gusella; Marcy E MacDonald; Richard H Myers
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
Neurogenetics 2004;5(2):109-14.
2004: Qingmin Ruan; Mathieu Lesort; Marcy E MacDonald; Gail Johnson
Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway.
Human molecular genetics 2004;13(7):669-81.
2004: Nancy S Wexler; Judith Lorimer; Julie Porter; Fidela Gomez; Carol Moskowitz; Edith Shackell; Karen Marder; Graciela Penchaszadeh; Simone A Roberts; Javier Gayán; Denise Brocklebank; Stacey Cherny; Lon R Cardon; Jacqueline Gray; Stephen R Dlouhy; Sandra Wiktorski; Marion E Hodes; P Michael Conneally; Jack B Penney; James Gusella; Jang-Ho Cha; Michael C Irizarry; Diana Rosas; Steven M Hersch; Zane Hollingsworth; Marcy E MacDonald; Anne B Young; J Michael Andresen; David E Housman; Margot Mieja De Young; Ernesto Bonilla; Theresa Stillings; Americo Negrette; S Robert Snodgrass; Maria Dolores Martinez-Jaurrieta; Maria A Ramos-Arroyo; Jacqueline Bickham; Juan Sanchez Ramos; Frederick John Marshall; Ira Shoulson; Gustavo J Rey; Andrew Feigin; Norman Arnheim; Amarilis Acevedo-Cruz; Leticia Acosta; Jose Alvir; Kenneth H Fischbeck; Leslie M Thompson; Angela Young; Leon Dure; Christopher J O'Brien; Jane S Paulsen; Adam Brickman; Denise Krch; Shelley Peery; Penelope Hogarth; Donald S Higgins; Bernhard Landwehrmeyer
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(10):3498-503.
2004: Hélène Rangone; Ghislaine Poizat; Juan C Troncoso; Christopher A Ross; Marcy E MacDonald; Frédéric Saudou; Sandrine Humbert
The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin.
The European journal of neuroscience 2004;19(2):273-9.
2003: Silvia Gines; Elena Ivanova; Ihn Sik Seong; Carlos A Saura; Marcy E MacDonald
Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells.
The Journal of biological chemistry 2003;278(50):50514-22.
2003: Christopher A Korey; Marcy E MacDonald
An over-expression system for characterizing Ppt1 function in Drosophila.
BMC neuroscience 2003;4():30.
2003: Marcy E MacDonald
Huntingtin: alive and well and working in middle management.
Science's STKE : signal transduction knowledge environment 2003;2003(207):pe48.
2003: Györgyi Szebenyi; Gerardo Morfini; Alyssa Babcock; Milena Gould; Kimberly Selkoe; David L Stenoien; Maureen Young; Pieter W Faber; Marcy E MacDonald; Michael J McPhaul; Scott T Brady
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport.
Neuron 2003;40(1):41-52.
2003: Jian-Liang Li; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Alexandra Durr; Catherine Dodé; Patrick J Morrison; Oksana Suchowersky; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Estrella Gómez-Tortosa; David Mayo Cabrero; Andrea Novelletto; Marina Frontali; Martha Nance; Ronald J A Trent; Elizabeth McCusker; Randi Jones; Jane S Paulsen; Madeline Harrison; Andrea Zanko; Ruth K Abramson; Ana L Russ; Beth Knowlton; Luc Djoussé; Jayalakshmi S Mysore; Suzanne Tariot; Michael F Gusella; Vanessa C Wheeler; Larry D Atwood; L Adrienne Cupples; Marie Saint-Hilaire; Jang-Ho J Cha; Steven M Hersch; Walter J Koroshetz; James Gusella; Marcy E MacDonald; Richard H Myers
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
American journal of human genetics 2003;73(3):682-7.
2003: Luc Djoussé; Beth Knowlton; Michael R Hayden; Elisabeth W Almqvist; Ryan R Brinkman; Christopher A Ross; Russell L Margolis; Adam Rosenblatt; Alexandra Durr; Catherine Dode; P J Morrison; Andrea Novelletto; Marina Frontali; Ronald J Trent; Elizabeth A McCusker; Estrella Gómez-Tortosa; D Mayo; R Jones; A Zanko; Martha Nance; Ruth K Abramson; Oksana Suchowersky; Jane S Paulsen; M Harrison; Qiong Yang; L Adrienne Cupples; James Gusella; Marcy E MacDonald; Richard H Myers
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.
American journal of medical genetics. Part A 2003;119A(3):279-82.
2003: Suzanne J Reid; Mark I Rees; Willeke van Roon-Mom; A Lesley Jones; Marcy E MacDonald; Greg Sutherland; Matthew J During; Richard L M Faull; Michael J Owen; Michael Dragunow; Russell G Snell
Molecular investigation of TBP allele length: a SCA17 cellular model and population study.
Neurobiology of disease 2003;13(1):37-45.
2003: C A F Teixeira; Janice A Espinola; Liang Huo; Johannes Kohlschütter; Dixie-Ann Persaud-Sawin; Berge A Minassian; Carlos Bessa; António Guimarães; Dietrich A Stephan; M. Clara Sá-Miranda; Marcy E MacDonald; Maria Gil Ribeiro; Rose-Mary N Boustany
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Human mutation 2003;21(5):502-8.
2003: Silvia Gines; Ihn Sik Seong; Elisa Fossale; Elena Ivanova; Flavia Trettel; James Gusella; Vanessa C Wheeler; Francesca Persichetti; Marcy E MacDonald
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.
Human molecular genetics 2003;12(5):497-508.
2003: Vanessa C Wheeler; Lori-Anne Lebel; Vladimir Vrbanac; Allison Teed; Hein te Riele; Marcy E MacDonald
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum.
Human molecular genetics 2003;12(3):273-81.
2003: Marcy E MacDonald; Silvia Gines; James Gusella; Vanessa C Wheeler
Huntington's disease.
Neuromolecular medicine 2003;4(1-2):7-20.
2003: B Joy Snider; J L Moss; F J Revilla; C-S Lee; Vanessa C Wheeler; Marcy E MacDonald; Dennis Choi
Neocortical neurons cultured from mice with expanded CAG repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults.
Neuroscience 2003;120(3):617-25.
2002: Willeke van Roon-Mom; Suzanne J Reid; A Lesley Jones; Marcy E MacDonald; Richard L M Faull; Russell G Snell
Insoluble TATA-binding protein accumulation in Huntington's disease cortex.
Brain research. Molecular brain research 2002;109(1-2):1-10.
2002: Susan L Cotman; Vladimir Vrbanac; Lori-Anne Lebel; Richard L Lee; Kevin A Johnson; Leah Rae Donahue; Allison Teed; Kristen Antonellis; Roderick T Bronson; Terry J Lerner; Marcy E MacDonald
Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.
Human molecular genetics 2002;11(22):2709-21.
2002: Shobu Namura; Lorenz Hirt; Vanessa C Wheeler; Kim M McGinnis; Paige Hilditch-Maguire; Michael A Moskowitz; Marcy E MacDonald; Francesca Persichetti
The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia.
Neurobiology of disease 2002;11(1):147-54.
2002: Elisa Fossale; Vanessa C Wheeler; Vladimir Vrbanac; Lori-Anne Lebel; Allison Teed; Jayalakshmi Mysore; James Gusella; Marcy E MacDonald; Francesca Persichetti
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(19):2233-41.
2002: Guido J Breedveld; Alan K Percy; Marcy E MacDonald; Bert B A de Vries; C Yapijakis; Leon S Dure; E F Ippel; Lodewijk A Sandkuijl; Peter Heutink; W F M Arts
Clinical and genetic heterogeneity in benign hereditary chorea.
Neurology 2002;59(4):579-84.
2002: Anita L DeStefano; Mark F Lew; Lawrence I Golbe; Margery H Mark; Alice Lazzarini; Mark Guttman; Erwin Montgomery; Cheryl H Waters; Carlos Singer; Ray L Watts; Lillian J Currie; G Frederick Wooten; Nancy E Maher; Jemma B Wilk; Kristin M Sullivan; Karen M Slater; Marie H Saint-Hilaire; Robert G Feldman; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; John H Growdon; Peter Vieregge; Peter P Pramstaller; Christine Klein; Jean P Hubble; Carson R Reider; Mark Stacy; Marcy E MacDonald; James Gusella; Richard H Myers
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.
American journal of human genetics 2002;70(5):1089-95.
2002: Guido J Breedveld; Jeroen W F van Dongen; Cesare Danesino; Andrea Guala; Alan K Percy; Leon S Dure; Peter Harper; Lazarus P Lazarou; Herma C van der Linde; Marijke Joosse; Annette Grüters; Marcy E MacDonald; Bert B A de Vries; W F M Arts; Ben A Oostra; Heiko Krude; Peter Heutink
Mutations in TITF-1 are associated with benign hereditary chorea.
Human molecular genetics 2002;11(8):971-9.
2002: Vanessa C Wheeler; Claire-Anne Gutekunst; Vladimir Vrbanac; Lori-Anne Lebel; Gabriele Schilling; Steven M Hersch; Robert M Friedlander; James Gusella; Jean-Paul Vonsattel; David R Borchelt; Marcy E MacDonald
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.
Human molecular genetics 2002;11(6):633-40.
2002: Eric K Richfield; Jean-Paul Vonsattel; Marcy E MacDonald; ZhiQiang Sun; Yun-Ping Deng; Anton Reiner
Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):327-32.
2002: Thijn R Brummelkamp; Roderik M Kortlever; Merel Lingbeek; Flavia Trettel; Marcy E MacDonald; Maarten van Lohuizen; René Bernards
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.
The Journal of biological chemistry 2002;277(8):6567-72.
2002: Hanlin Gao; Rose-Mary N Boustany; Janice A Espinola; Susan L Cotman; Lakshmi Srinidhi; Kristen Auger Antonellis; Tammy Gillis; Xuebin Qin; Shumei Liu; Leah Rae Donahue; Roderick T Bronson; Jerry R Faust; Derek Stout; Jonathan L Haines; Terry J Lerner; Marcy E MacDonald
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
American journal of human genetics 2002;70(2):324-35.
2002: James Gusella; Marcy E MacDonald
No post-genetics era in human disease research.
Nature reviews. Genetics 2002;3(1):72-9.
2001: Wojtek Auerbach; Marc S Hurlbert; Paige Hilditch-Maguire; Youssef Wadghiri; Vanessa C Wheeler; S I Cohen; Alexandra L Joyner; Marcy E MacDonald; Daniel Turnbull
The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.
Human molecular genetics 2001;10(22):2515-23.
2001: Anita L DeStefano; Lawrence I Golbe; Margery H Mark; Alice Lazzarini; NE Maher; Marie H Saint-Hilaire; Robert G Feldman; Mark Guttman; Ray L Watts; Oksana Suchowersky; Anne-Louise Lafontaine; Nancy Labelle; Mark Lew; C H Waters; John H Growdon; Carlos Singer; Lillian J Currie; G Frederick Wooten; Peter Vieregge; P P Pramstaller; Christine Klein; Jean P Hubble; Mark Stacy; E Montgomery; Marcy E MacDonald; James Gusella; Richard H Myers
Genome-wide scan for Parkinson's disease: the GenePD Study.
Neurology 2001;57(6):1124-6.
2001: Chiara Zuccato; Andrea Ciammola; Dorotea Rigamonti; Blair R Leavitt; Donato Goffredo; Luciano Conti; Marcy E MacDonald; R M Friedlander; Vincenzo Silani; Michael R Hayden; Tõnis Timmusk; Simonetta Sipione; Elena Cattaneo
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease.
Science (New York, N.Y.) 2001;293(5529):493-8.
2001: Wanjoo Chun; Mathieu Lesort; Janusz Tucholski; P W Faber; Marcy E MacDonald; Christopher A Ross; Gail Johnson
Tissue transglutaminase selectively modifies proteins associated with truncated mutant huntingtin in intact cells.
Neurobiology of disease 2001;8(3):391-404.
2001: Estrella Gómez-Tortosa; Marcy E MacDonald; J C Friend; S A Taylor; L J Weiler; L Adrienne Cupples; J Srinidhi; James Gusella; ED Bird; Jean-Paul Vonsattel; Richard H Myers
Quantitative neuropathological changes in presymptomatic Huntington's disease.
Annals of neurology 2001;49(1):29-34.
2000: Flavia Trettel; Dorotea Rigamonti; Paige Hilditch-Maguire; Vanessa C Wheeler; A H Sharp; Francesca Persichetti; Elena Cattaneo; Marcy E MacDonald
Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.
Human molecular genetics 2000;9(19):2799-809.
2000: Paige Hilditch-Maguire; Flavia Trettel; LA Passani; A Auerbach; Francesca Persichetti; Marcy E MacDonald
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
Human molecular genetics 2000;9(19):2789-97.
2000: James Gusella; Marcy E MacDonald
Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.
Nature reviews. Neuroscience 2000;1(2):109-15.
2000: LA Passani; M T Bedford; Peter W Faber; K M McGinnis; A H Sharp; James Gusella; Jean-Paul Vonsattel; Marcy E MacDonald
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
Human molecular genetics 2000;9(14):2175-82.
2000: Vanessa C Wheeler; JK White; Claire-Anne Gutekunst; Vladimir Vrbanac; M Weaver; Xiao-Jiang Li; S H Li; H Yi; Jean-Paul Vonsattel; James Gusella; Steven M Hersch; Wojtek Auerbach; Alexandra L Joyner; Marcy E MacDonald
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice.
Human molecular genetics 2000;9(4):503-13.
1999: Marcy E MacDonald; Jean-Paul Vonsattel; J Shrinidhi; NN Couropmitree; L Adrienne Cupples; ED Bird; James Gusella; Richard H Myers
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.
Neurology 1999;53(6):1330-2.
1999: Francesca Persichetti; Flavia Trettel; C C Huang; Cornel Fraefel; H T Timmers; James Gusella; Marcy E MacDonald
Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment.
Neurobiology of disease 1999;6(5):364-75.
1999: EP Leeflang; Simon Tavaré; Paul Marjoram; C O Neal; J Srinidhi; H MacFarlane; Marcy E MacDonald; James Gusella; M de Young; Nancy S Wexler; Norman Arnheim
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
Human molecular genetics 1999;8(2):173-83.
1999: Peter W Faber; J R Alter; Marcy E MacDonald; Anne C Hart
Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(1):179-84.
1999: Vanessa C Wheeler; Wojtek Auerbach; JK White; J Srinidhi; A Auerbach; A Ryan; Mabel P Duyao; Vladimir Vrbanac; M Weaver; James Gusella; Alexandra L Joyner; Marcy E MacDonald
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.
Human molecular genetics 1999;8(1):115-22.
1998: George R Jackson; Iris Salecker; Xinzhong Dong; X Yao; Norman Arnheim; P W Faber; Marcy E MacDonald; S Lawrence Zipursky
Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons.
Neuron 1998;21(3):633-42.
1998: Peter W Faber; G T Barnes; J Srinidhi; J Chen; James Gusella; Marcy E MacDonald
Huntingtin interacts with a family of WW domain proteins.
Human molecular genetics 1998;7(9):1463-74.
1998: C C Huang; Peter W Faber; Francesca Persichetti; V Mittal; Jean-Paul Vonsattel; Marcy E MacDonald; James Gusella
Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins.
Somatic cell and molecular genetics 1998;24(4):217-33.
1998: James Gusella; Marcy E MacDonald
Huntingtin: a single bait hooks many species.
Current opinion in neurobiology 1998;8(3):425-30.
1998: Bruce G Jenkins; H Diana Rosas; Y C Chen; T Makabe; Richard H Myers; Marcy E MacDonald; Bruce R Rosen; M Flint Beal; Walter J Koroshetz
1H NMR spectroscopy studies of Huntington's disease: correlations with CAG repeat numbers.
Neurology 1998;50(5):1357-65.
1998: Marcy E MacDonald
Molecular genetics of Huntington's disease.
Results and problems in cell differentiation 1998;21():47-75.
1997: JK White; Wojtek Auerbach; Mabel P Duyao; Jean-Paul Vonsattel; James Gusella; Alexandra L Joyner; Marcy E MacDonald
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
Nature genetics 1997;17(4):404-10.
1997: I Pribill; G T Barnes; J Chen; D Church; AJ Buckler; S Baxendale; Gillian P Bates; H Lehrach; M J Gusella; Mabel P Duyao; C M Ambrose; James Gusella; Marcy E MacDonald
Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3.
Somatic cell and molecular genetics 1997;23(6):413-27.
1997: J Priller; Clemens R Scherzer; P W Faber; Marcy E MacDonald; Anne B Young
Frataxin gene of Friedreich's ataxia is targeted to mitochondria.
Annals of neurology 1997;42(2):265-9.
1997: R M Jones; Marcy E MacDonald; John A Branda; MR Altherr; David N Louis; Emmett V Schmidt
Assignment of the human gene encoding eukaryotic initiation factor 4E (EIF4E) to the region q21-25 on chromosome 4.
Somatic cell and molecular genetics 1997;23(3):221-3.
1997: S M McNeil; A Novelletto; J Srinidhi; G Barnes; I Kornbluth; MR Altherr; J J Wasmuth; James Gusella; Marcy E MacDonald; Richard H Myers
Reduced penetrance of the Huntington's disease mutation.
Human molecular genetics 1997;6(5):775-9.
1997: John B Penney; Jean-Paul Vonsattel; Marcy E MacDonald; James Gusella; Richard H Myers
CAG repeat number governs the development rate of pathology in Huntington's disease.
Annals of neurology 1997;41(5):689-92.
1997: Robert J Ferrante; Claire-Anne Gutekunst; Francesca Persichetti; S M McNeil; Neil W Kowall; James Gusella; Marcy E MacDonald; M Flint Beal; Steven M Hersch
Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(9):3052-63.
1997: Christoph M Kosinski; Jang-Ho Cha; Anne B Young; Francesca Persichetti; Marcy E MacDonald; James Gusella; John B Penney; David G Standaert
Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons.
Experimental neurology 1997;144(2):239-47.
1997: James Gusella; Francesca Persichetti; Marcy E MacDonald
The genetic defect causing Huntington's disease: repeated in other contexts?
Molecular medicine (Cambridge, Mass.) 1997;3(4):238-46.
1996: Marcy E MacDonald; James Gusella
Huntington's disease: translating a CAG repeat into a pathogenic mechanism.
Current opinion in neurobiology 1996;6(5):638-43.
1996: Marcy E MacDonald; Mabel P Duyao; T Calzonetti; A Auerbach; A Ryan; G Barnes; J K White; Wojtek Auerbach; Jean-Paul Vonsattel; James Gusella; Alexandra L Joyner
Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.
Cold Spring Harbor symposia on quantitative biology 1996;61():627-38.
1996: James Gusella; S McNeil; Francesca Persichetti; J Srinidhi; Andrea Novelletto; E Bird; Peter W Faber; Jean-Paul Vonsattel; Richard H Myers; Marcy E MacDonald
Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1996;61():615-26.
1996: Francesca Persichetti; L Carlee; Peter W Faber; S M McNeil; C M Ambrose; J Srinidhi; M Anderson; G T Barnes; James Gusella; Marcy E MacDonald
Differential expression of normal and mutant Huntington's disease gene alleles.
Neurobiology of disease 1996;3(3):183-90.
1996: James Gusella; Marcy E MacDonald
Trinucleotide instability: a repeating theme in human inherited disorders.
Annual review of medicine 1996;47():201-9.
1995: James Gusella; Marcy E MacDonald
Huntington's disease: CAG genetics expands neurobiology.
Current opinion in neurobiology 1995;5(5):656-62.
1995: EP Leeflang; Lin Zhang; Simon Tavaré; R Hubert; J Srinidhi; Marcy E MacDonald; Richard H Myers; M de Young; N S Wexler; James Gusella
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
Human molecular genetics 1995;4(9):1519-26.
1995: James Gusella; Marcy E MacDonald
Huntington's disease.
Seminars in cell biology 1995;6(1):21-8.
1995: Jean-Paul Vonsattel; H Aizawa; P Ge; Marian DiFiglia; A C McKee; Marcy E MacDonald; James Gusella; G Bernhard Landwehrmeyer; ED Bird; E P Richardson
An improved approach to prepare human brains for research.
Journal of neuropathology and experimental neurology 1995;54(1):42-56.
1994: Francesca Persichetti; J Srinidhi; L Kanaley; P Ge; Richard H Myers; K D'Arrigo; G T Barnes; Marcy E MacDonald; Jean-Paul Vonsattel; James Gusella
Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.
Neurobiology of disease 1994;1(3):159-66.
1994: Karl Kieburtz; Marcy E MacDonald; C Shih; A Feigin; K Steinberg; K Bordwell; C Zimmerman; J Srinidhi; J Sotack; James Gusella
Trinucleotide repeat length and progression of illness in Huntington's disease.
Journal of medical genetics 1994;31(11):872-4.
1994: Andrea Novelletto; Francesca Persichetti; G Sabbadini; Paola Mandich; Emilia Bellone; Franco Ajmar; F Squitieri; G Campanella; A Bozza; Marcy E MacDonald
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
Human molecular genetics 1994;3(7):1129-32.
1994: R Hubert; Marcy E MacDonald; James Gusella; Norman Arnheim
High resolution localization of recombination hot spots using sperm typing.
Nature genetics 1994;7(3):420-4.
1994: C L Grosson; Marcy E MacDonald; Mabel P Duyao; C M Ambrose; S Roffler-Tarlov; James Gusella
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5.
Mammalian genome : official journal of the International Mammalian Genome Society 1994;5(7):424-8.
1994: James Gusella; Marcy E MacDonald
Huntington's disease and repeating trinucleotides.
The New England journal of medicine 1994;330(20):1450-1.
1994: Mia MacCollin; Robert A Peterfreund; Marcy E MacDonald; J Stephen Fink; James Gusella
Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.
Genomics 1994;20(2):332-3.
1994: G T Barnes; Mabel P Duyao; C M Ambrose; S McNeil; Francesca Persichetti; J Srinidhi; James Gusella; Marcy E MacDonald
Mouse Huntington's disease gene homolog (Hdh).
Somatic cell and molecular genetics 1994;20(2):87-97.
1994: Andrea Novelletto; Francesca Persichetti; G Sabbadini; Paola Mandich; Emilia Bellone; Franco Ajmar; M Pergola; L Del Senno; Marcy E MacDonald; James Gusella
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
Human molecular genetics 1994;3(1):93-8.
1994: H Hummerich; S Baxendale; R Mott; S F Kirby; Marcy E MacDonald; James Gusella; Hans Lehrach; Gillian P Bates
Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
Human molecular genetics 1994;3(1):73-8.
1993: Marcy E MacDonald; G Barnes; J Srinidhi; Mabel P Duyao; C M Ambrose; Richard H Myers; J Gray; P M Conneally; Anne B Young; J Penney
Gametic but not somatic instability of CAG repeat length in Huntington's disease.
Journal of medical genetics 1993;30(12):982-6.
1993: James Gusella; Marcy E MacDonald; C M Ambrose; Mabel P Duyao
Molecular genetics of Huntington's disease.
Archives of neurology 1993;50(11):1157-63.
1993: Richard H Myers; Marcy E MacDonald; James Gusella
Discrepancy resolved.
Nature genetics 1993;5(3):215.
1993: Richard H Myers; Marcy E MacDonald; Walter J Koroshetz; Mabel P Duyao; C M Ambrose; S A Taylor; G Barnes; J Srinidhi; C S Lin; W L Whaley
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.
Nature genetics 1993;5(2):168-73.
1993: R G Snell; J C MacMillan; Jeremy P Cheadle; Iain Fenton; Lazarus Lazarou; Peter Davies; Marcy E MacDonald; James Gusella; Peter S Harper; D J Shaw
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
Nature genetics 1993;4(4):393-7.
1993: S Baxendale; Marcy E MacDonald; R Mott; Fiona Francis; C Lin; S F Kirby; M James; G Zehetner; H Hummerich; J Valdes
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
Nature genetics 1993;4(2):181-6.
1993: Danilo A Tagle; K L Blanchard-McQuate; J Valdes; Lucio H Castilla; Marcy E MacDonald; James Gusella; Francis S Collins
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus.
Human molecular genetics 1993;2(4):489.
1993: Herman E Wyandt; Jeff M Milunsky; T Lerner; James Gusella; A Hou; Marcy E MacDonald; S Adekunle; Aubrey Milunsky
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
American journal of medical genetics 1993;46(1):72-6.
1993: R G Snell; L A Doucette-Stamm; K M Gillespie; S A Taylor; L Riba; Gillian P Bates; M R Altherr; Marcy E MacDonald; James Gusella; J J Wasmuth
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
Human molecular genetics 1993;2(3):305-9.
1993: James Gusella; Marcy E MacDonald
Hunting for Huntington's disease.
Molecular genetic medicine 1993;3():139-58.
1993: P A Locke; Marcy E MacDonald; J Srinidhi; T C Gilliam; Rudolph E Tanzi; P M Conneally; N S Wexler; Jonathan L Haines; James Gusella
A genetic linkage map of the chromosome 4 short arm.
Somatic cell and molecular genetics 1993;19(1):95-101.
1992: B A Allitto; Andrea I McClatchey; G Barnes; M Altherr; J Wasmuth; A M Frischauf; Marcy E MacDonald; James Gusella
Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
Molecular and cellular probes 1992;6(6):513-20.
1992: H S Scott; PV Nelson; Marcy E MacDonald; James Gusella; J J Hopwood; C P Morris
An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.
Genomics 1992;14(4):1118-20.
1992: S Youngman; Gillian P Bates; S Williams; Andrea I McClatchey; S Baxendale; Z Sedlacek; M Altherr; J J Wasmuth; Marcy E MacDonald; James Gusella
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.
Genomics 1992;14(2):350-6.
1992: M R Altherr; S Plummer; Gillian P Bates; Marcy E MacDonald; S Taylor; H Lehrach; A M Frischauf; James Gusella; M Boehnke; JJ Wasmuth
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
Genomics 1992;13(4):1040-6.
1992: R G Snell; L M Thompson; D A Tagle; T L Holloway; G Barnes; H G Harley; Lodewijk A Sandkuijl; Marcy E MacDonald; Francis S Collins; James Gusella
A recombination event that redefines the Huntington disease region.
American journal of human genetics 1992;51(2):357-62.
1992: Gillian P Bates; J Valdes; H Hummerich; S Baxendale; D L Le Paslier; Anthony P Monaco; Danilo A Tagle; Marcy E MacDonald; M Altherr; M Ross
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region.
Nature genetics 1992;1(3):180-7.
1992: S A Taylor; G T Barnes; Marcy E MacDonald; James Gusella
A dinucleotide repeat polymorphism at the D4S127 locus.
Human molecular genetics 1992;1(2):142.
1992: Marcy E MacDonald; A Novelletto; C Lin; Danilo A Tagle; G Barnes; Gillian P Bates; S Taylor; B Allitto; M Altherr; Richard H Myers
The Huntington's disease candidate region exhibits many different haplotypes.
Nature genetics 1992;1(2):99-103.
1992: T Koizumi; Marcy E MacDonald; M Búcan; J J Hopwood; C P Morris; H S Scott; James Gusella; J H Nadeau
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(1):23-7.
1992: C Ambrose; S Cheng; B Fontaine; J H Nadeau; Marcy E MacDonald; James Gusella
The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
Mammalian genome : official journal of the International Mammalian Genome Society 1992;3(3):151-5.
1991: S Baxendale; Gillian P Bates; Marcy E MacDonald; James Gusella; Hans Lehrach
The direct screening of cosmid libraries with YAC clones.
Nucleic acids research 1991;19(23):6651.
1991: Lazarus Lazarou; R G Snell; Marcy E MacDonald; James Gusella; J J Wasmuth; D J Shaw
MboI RFLP at the D4S43 (C4H) locus.
Nucleic acids research 1991;19(19):5445.
1991: Marcy E MacDonald; C Lin; L Srinidhi; Gillian P Bates; M Altherr; W L Whaley; Hans Lehrach; J Wasmuth; James Gusella
Complex patterns of linkage disequilibrium in the Huntington disease region.
American journal of human genetics 1991;49(4):723-34.
1991: Glenn T Horn; Andrea I McClatchey; B Richards; Marcy E MacDonald; James Gusella
Detection by PCR of a VNTR polymorphism at D4S43.
Nucleic acids research 1991;19(17):4772.
1991: C S Lin; M Altherr; Gillian P Bates; W L Whaley; A P Read; R Harris; Hans Lehrach; J J Wasmuth; James Gusella; Marcy E MacDonald
New DNA markers in the Huntington's disease gene candidate region.
Somatic cell and molecular genetics 1991;17(5):481-8.
1991: Marcy E MacDonald; H S Scott; W L Whaley; T Pohl; J J Wasmuth; Hans Lehrach; C P Morris; A M Frischauf; J J Hopwood; James Gusella
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Somatic cell and molecular genetics 1991;17(4):421-5.
1991: Gillian P Bates; Marcy E MacDonald; S Baxendale; S Youngman; C Lin; W L Whaley; J J Wasmuth; James Gusella; Hans Lehrach
Defined physical limits of the Huntington disease gene candidate region.
American journal of human genetics 1991;49(1):7-16.
1991: B A Allitto; Marcy E MacDonald; M Bucan; J Richards; Donna M Romano; W L Whaley; B Falcone; J Ianazzi; N S Wexler; J J Wasmuth
Increased recombination adjacent to the Huntington disease-linked D4S10 marker.
Genomics 1991;9(1):104-12.
1990: Gillian P Bates; Marcy E MacDonald; S Baxendale; Z Sedlacek; S Youngman; Donna M Romano; W L Whaley; B A Allitto; A Poustka; James Gusella
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
American journal of human genetics 1990;46(4):762-75.
1989: S Youngman; M Sarfarazi; M Bucan; Marcy E MacDonald; B Smith; M Zimmer; C Gilliam; A M Frischauf; J J Wasmuth; James Gusella
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
Genomics 1989;5(4):802-9.
1989: Marcy E MacDonald; S V Cheng; M Zimmer; Jonathan L Haines; A Poustka; B Allitto; B Smith; W L Whaley; Donna M Romano; J Jagadeesh
Clustering of multiallele DNA markers near the Huntington's disease gene.
The Journal of clinical investigation 1989;84(3):1013-6.
1989: Marcy E MacDonald; Jonathan L Haines; M Zimmer; S V Cheng; S Youngman; W L Whaley; N Wexler; M Bucan; B A Allitto; B Smith
Recombination events suggest potential sites for the Huntington's disease gene.
Neuron 1989;3(2):183-90.
1989: S V Cheng; G R Martin; Joseph H Nadeau; Jonathan L Haines; M Bucan; C A Kozak; Marcy E MacDonald; J L Lockyer; F D Ledley; S L Woo
Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene.
Genomics 1989;4(3):419-26.
1988: W L Whaley; F Michiels; Marcy E MacDonald; Donna M Romano; M Zimmer; B Smith; J Leavitt; M Bucan; Jonathan L Haines; T C Gilliam
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4.
Nucleic acids research 1988;16(24):11769-80.
1988: T M Pohl; M Zimmer; Marcy E MacDonald; B Smith; M Bucan; A Poustka; Stefano Volinia; S Searle; G Zehetner; J J Wasmuth
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.
Nucleic acids research 1988;16(19):9185-98.
1987: T C Gilliam; M Bucan; Marcy E MacDonald; M Zimmer; Jonathan L Haines; S V Cheng; T M Pohl; R H Meyers; W L Whaley; B A Allitto
A DNA segment encoding two genes very tightly linked to Huntington's disease.
Science (New York, N.Y.) 1987;238(4829):950-2.
1987: Marcy E MacDonald; M A Anderson; T C Gilliam; L Tranejaerg; N J Carpenter; E Magenis; Michael R Hayden; S T Healey; T I Bonner; James Gusella
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
Genomics 1987;1(1):29-34.
1987: Marcy E MacDonald; M A Anderson; J L Lockyer; S Milstien; W J Hobbs; A G Faryniarz; S Kaufman; F D Ledley; S L Woo; James Gusella
Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4.
Somatic cell and molecular genetics 1987;13(5):569-74.
1987: T C Gilliam; Rudolph E Tanzi; Jonathan L Haines; T I Bonner; A G Faryniarz; W J Hobbs; Marcy E MacDonald; S V Cheng; Susan E Folstein; P M Conneally
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.
Cell 1987;50(4):565-71.
1987: T C Gilliam; S T Healey; Marcy E MacDonald; G D Stewart; J J Wasmuth; Rudolph E Tanzi; J C Roy; James Gusella
Isolation of polymorphic DNA fragments from human chromosome 4.
Nucleic acids research 1987;15(4):1445-58.
1986: James Gusella; T C Gilliam; Marcy E MacDonald; S V Cheng; Rudolph E Tanzi
Molecular genetics of human chromosome 4.
Journal of medical genetics 1986;23(3):193-9.
1986: James Gusella; T C Gilliam; Rudolph E Tanzi; Marcy E MacDonald; S V Cheng; M Wallace; Jonathan L Haines; P M Conneally; N S Wexler
Molecular genetics of Huntington's disease.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():359-64.