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Eric Schon

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Eric A Schon; Estela Area-Gomez
Mitochondria-associated ER membranes in Alzheimer disease.
Guomei Tang; Kurenai Tanji; Hasan Orhan Akman; Salvatore DiMauro; andrew dwork; James Goldman; Puri Gutierrez Rios; Sheng-Han Kuo; Gorazd Rosoklija; Eric A Schon; David Sulzer
Mitochondrial abnormalities in temporal lobe of autistic brain.
Estela Area-Gomez; Thomas D Bird; Ad J C de Groof; Maria Del Carmen Lara Castillo; Cristina Guardia-Laguarta; Junichi Ikenouchi; Moneek Madra; Stephen L Sturley; Marc D Tambini; Masato Umeda; Eric A Schon
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

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All Publications

2013: Eric A Schon; Estela Area-Gomez
Mitochondria-associated ER membranes in Alzheimer disease.
Molecular and cellular neurosciences 2013;55():26-36.
2013: Guomei Tang; Kurenai Tanji; Hasan Orhan Akman; Salvatore DiMauro; andrew dwork; James Goldman; Puri Gutierrez Rios; Sheng-Han Kuo; Gorazd Rosoklija; Eric A Schon; David Sulzer
Mitochondrial abnormalities in temporal lobe of autistic brain.
Neurobiology of disease 2013;54():349-61.
2012: Estela Area-Gomez; Thomas D Bird; Ad J C de Groof; Maria Del Carmen Lara Castillo; Cristina Guardia-Laguarta; Junichi Ikenouchi; Moneek Madra; Stephen L Sturley; Marc D Tambini; Masato Umeda; Eric A Schon
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
The EMBO journal 2012;31(21):4106-23.
2012: Chunmei Qiu; James J Russo; Eric A Schon; Shundi Shi; Sergey M Kalachikov; Shiv Kumar; Jiesheng Lu; Ali Naini; J Guo; Jingyue Ju
Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotides.
Analytical biochemistry 2012;427(2):202-10.
2012: Rosa L A de Vries; Robert W Gilkerson; Serge Przedborski; Eric A Schon
Mitophagy in cells with mtDNA mutations: being sick is not enough.
Autophagy 2012;8(4):699-700.
2012: Salvatore DiMauro; Kurenai Tanji; Eric A Schon
The many clinical faces of cytochrome c oxidase deficiency.
Advances in experimental medicine and biology 2012;748():341-57.
2012: Alberto Casarin; Matteo Cassina; Cristina Cerqua; Maurizio Clementi; Salvatore DiMauro; Mara Doimo; Gianpietro Giorgi; Mercy M Davidson; Vanessa Pertegato; Rosario Rizzuto; Sabrina Sacconi; Giuseppe Basso; Sonja Brosel; Eric A Schon; Roberta Siviero; Eva Trevisson; Leonardo Salviati
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Orphanet journal of rare diseases 2012;7():21.
2011: Eric A Schon; Serge Przedborski
Mitochondria: the next (neurode)generation.
Neuron 2011;70(6):1033-53.
2010: Sonja Brosel; Hua Yang; Kurenai Tanji; Eduardo Bonilla; Eric A Schon
Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
The American journal of pathology 2010;177(5):2541-8.
2010: Eric A Schon; Salvatore DiMauro; Michio Hirano; Robert W Gilkerson
Therapeutic prospects for mitochondrial disease.
Trends in molecular medicine 2010;16(6):268-76.
2010: Eric A Schon; Robert W Gilkerson
Functional complementation of mitochondrial DNAs: mobilizing mitochondrial genetics against dysfunction.
Biochimica et biophysica acta 2010;1800(3):245-9.
2010: Eric A Schon; Estela Area-Gomez
Is Alzheimer's disease a disorder of mitochondria-associated membranes?
Journal of Alzheimer's disease : JAD 2010;20 Suppl 2():S281-92.
2010: Hua Yang; Sonja Brosel; Rebeca Acin-Perez; Vesna Slavkovich; Ichizo Nishino; Raffay Khan; Ira J Goldberg; Joseph Graziano; Giovanni Manfredi; Eric A Schon
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
Human molecular genetics 2010;19(1):170-80.
2009: Estela Area-Gomez; Ad J C de Groof; Istvan Boldogh; Thomas D Bird; Gary E Gibson; Carla M Koehler; W Haung Yu; karen duff; Michael P Yaffe; Liza A Pon; Eric A Schon
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
The American journal of pathology 2009;175(5):1810-6.
2009: Eric A Schon; Norbert A Dencher
Heavy breathing: energy conversion by mitochondrial respiratory supercomplexes.
Cell metabolism 2009;9(1):1-3.
2008: Yin Mei Lim; Ad J C de Groof; Mrinal K Bhattacharjee; David H Figurski; Eric A Schon
Bacterial conjugation in the cytoplasm of mouse cells.
Infection and immunity 2008;76(11):5110-9.
2008: Chun Zhou; Yong Huang; Yufang Shao; Jessica May; Delphine Prou; Celine Perier; William T Dauer; Eric A Schon; Serge Przedborski
The kinase domain of mitochondrial PINK1 faces the cytoplasm.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(33):12022-7.
2008: Robert W Gilkerson; Eric A Schon; Evelyn Hernandez; Mercy M Davidson
Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation.
The Journal of cell biology 2008;181(7):1117-28.
2008: Sabrina Sacconi; Leonardo Salviati; Yutaka Nishigaki; Winsome F Walker; Evelyn Hernandez-Rosa; Eva Trevisson; Severine Delplace; Claude Desnuelle; Sara Shanske; Michio Hirano; Eric A Schon; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro; Mercy M Davidson
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
2008: Robert W Gilkerson; Eric A Schon
Nucleoid autonomy: An underlying mechanism of mitochondrial genetics with therapeutic potential.
Communicative & integrative biology 2008;1(1):34-6.
2007: Eric A Schon; Salvatore DiMauro
Mitochondrial mutations: genotype to phenotype.
Novartis Foundation symposium 2007;287():214-25; discussion 226-33.
2007: Eric A Schon
Appendix 6. Changes in the mitochondrial transcriptome and proteome under various stresses and growth conditions.
Methods in cell biology 2007;80():877-87.
2007: Eric A Schon
Appendix 5. Gene products present in mitochondria of yeast and animal cells.
Methods in cell biology 2007;80():835-76.
2007: Eric A Schon
Appendix 4. Mitochondrial genetic codes in various organisms.
Methods in cell biology 2007;80():831-3.
2007: Eric A Schon
Appendix 3. Linearized maps of circular mitochondrial genomes from representative organisms.
Methods in cell biology 2007;80():827-9.
2006: Salvatore DiMauro; Michio Hirano; Eric A Schon
Approaches to the treatment of mitochondrial diseases.
Muscle & nerve 2006;34(3):265-83.
2005: Stefanie Zanssen; Eric A Schon
Mitochondrial DNA mutations in cancer.
PLoS medicine 2005;2(11):e401.
2005: John C Williams; Carolyn M Sue; Graham S Banting; Hua Yang; D Moira Glerum; Wayne A Hendrickson; Eric A Schon
Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.
The Journal of biological chemistry 2005;280(15):15202-11.
2005: Ali Naini; Petra Kaufmann; Sara Shanske; Kristin Engelstad; Darryl C De Vivo; Eric A Schon
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".
Journal of the neurological sciences 2005;229-230():187-93.
2004: Stacey K H Tay; Claudia Nesti; Michelangelo Mancuso; Eric A Schon; Sara Shanske; Eduardo Bonilla; Mercy M Davidson; Salvatore DiMauro
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
2004: Francesco Pallotti; Alessandra Baracca; Evelyn Hernandez-Rosa; Winsome F Walker; Giancarlo Solaini; Giorgio Lenaz; Gian Vico Melzi d'Eril; Salvatore DiMauro; Eric A Schon; Mercy M Davidson
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.
The Biochemical journal 2004;384(Pt 2):287-93.
2004: Sumana Santra; Robert W Gilkerson; Mercy Davidson; Eric A Schon
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells.
Annals of neurology 2004;56(5):662-9.
2004: Eric A Schon
Complements of the house.
The Journal of clinical investigation 2004;114(6):760-2.
2004: Stefanie Zanssen; Bastian Gunawan; Laszlo Fuzesi; Dorothy Warburton; Eric A Schon
Renal oncocytomas with rearrangements involving 11q13 contain breakpoints near CCND1.
Cancer genetics and cytogenetics 2004;149(2):120-4.
2003: Eric A Schon; Salvatore DiMauro
Medicinal and genetic approaches to the treatment of mitochondrial disease.
Current medicinal chemistry 2003;10(23):2523-33.
2003: Eric A Schon
Tales from the crypt.
The Journal of clinical investigation 2003;112(9):1312-6.
2003: Salvatore DiMauro; Eric A Schon
Mitochondrial respiratory-chain diseases.
The New England journal of medicine 2003;348(26):2656-68.
2003: Eric A Schon; Giovanni Manfredi
Neuronal degeneration and mitochondrial dysfunction.
The Journal of clinical investigation 2003;111(3):303-12.
2002: Joseline Ojaimi; Junmin Pan; Sumana Santra; William J Snell; Eric A Schon
An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit.
Molecular biology of the cell 2002;13(11):3836-44.
2002: Salvatore DiMauro; Kurenai Tanji; Eduardo Bonilla; Francesco Pallotti; Eric A Schon
Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects.
Muscle & nerve 2002;26(5):597-607.
2002: Sara Shanske; Yingying Tang; Michio Hirano; Yutaka Nishigaki; Kurenai Tanji; Eduardo Bonilla; Carolyn M Sue; Sindu Krishna; Jose R Carlo; Judith Willner; Eric A Schon; Salvatore DiMauro
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
American journal of human genetics 2002;71(3):679-83.
2002: Leonardo Salviati; Sabrina Sacconi; Minerva M Rasalan; David F Kronn; Alex Braun; Peter Canoll; Mercy Davidson; Sara Shanske; Eduardo Bonilla; Arthur P Hays; Eric A Schon; Salvatore DiMauro
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
2002: Carla Giordano; Francesco Pallotti; Winsome F Walker; Nicoletta Checcarelli; Olimpia Musumeci; Filippo M Santorelli; Giulia d'Amati; Eric A Schon; Salvatore DiMauro; Michio Hirano; Mercy M Davidson
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
Biochemical and biophysical research communications 2002;293(1):521-9.
2002: Leonardo Salviati; Evelyn Hernandez-Rosa; Winsome F Walker; Sabrina Sacconi; Salvatore DiMauro; Eric A Schon; Mercy M Davidson
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.
The Biochemical journal 2002;363(Pt 2):321-7.
2002: Giovanni Manfredi; Jin Fu; Joseline Ojaimi; James E Sadlock; Jennifer Q Kwong; John Guy; Eric A Schon
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.
Nature genetics 2002;30(4):394-9.
2002: Falk R Wiedemann; Giovanni Manfredi; Christian Mawrin; M Flint Beal; Eric A Schon
Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients.
Journal of neurochemistry 2002;80(4):616-25.
2002: Eric A Schon; Ali Naini; Sara Shanske
Identification of mutations in mtDNA from patients suffering mitochondrial diseases.
Methods in molecular biology (Clifton, N.J.) 2002;197():55-74.
2001: Eric A Schon; S Santra; Francesco Pallotti; Mark E Girvin
Pathogenesis of primary defects in mitochondrial ATP synthesis.
Seminars in cell & developmental biology 2001;12(6):441-8.
2001: Salvatore DiMauro; Eric A Schon
Mitochondrial DNA mutations in human disease.
American journal of medical genetics 2001;106(1):18-26.
2000: Eric A Schon
Mitochondrial genetics and disease.
Trends in biochemical sciences 2000;25(11):555-60.
2000: Kurenai Tanji; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium.
Journal of the neurological sciences 2000;178(1):29-36.
2000: E K Dickinson; D L Adams; Eric A Schon; D Moira Glerum
A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway.
The Journal of biological chemistry 2000;275(35):26780-5.
2000: Eric A Schon; S H Kim; Jose Carlos Ferreira; P Magalhães; M Grace; Dorothy Warburton; Susan J Gross
Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?
Human reproduction (Oxford, England) 2000;15 Suppl 2():160-72.
2000: Yingying Tang; Giovanni Manfredi; Michio Hirano; Eric A Schon
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines.
Molecular biology of the cell 2000;11(7):2349-58.
2000: Carolyn M Sue; Eric A Schon
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?
Brain pathology (Zurich, Switzerland) 2000;10(3):442-50.
2000: Olimpia Musumeci; Antoni L Andreu; Sara Shanske; N Bresolin; G P Comi; R Rothstein; Eric A Schon; Salvatore DiMauro
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
American journal of human genetics 2000;66(6):1900-4.
2000: Yingying Tang; Eric A Schon; E Wilichowski; M E Vazquez-Memije; Edgar Davidson; Michael P King
Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression.
Molecular biology of the cell 2000;11(4):1471-85.
2000: Salvatore DiMauro; Michio Hirano; Eric A Schon
Mitochondrial encephalomyopathies: therapeutic approaches.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(5 Suppl):S901-8.
1999: Lefkothea C Papadopoulou; Carolyn M Sue; Mercy M Davidson; Kurenai Tanji; I Nishino; James E Sadlock; S Krishna; W Walker; J Selby; D Moira Glerum; R V Coster; G Lyon; E Scalais; R Lebel; P Kaplan; Sara Shanske; Darryl C De Vivo; Eduardo Bonilla; Michio Hirano; Salvatore DiMauro; Eric A Schon
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
1999: M J Evans; Cagan Gurer; John D Loike; Ian Wilmut; Angelika Schnieke; Eric A Schon
Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep.
Nature genetics 1999;23(1):90-3.
1999: Marisa Brini; Paolo Pinton; Michael P King; M Davidson; Eric A Schon; Rosario Rizzuto
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency.
Nature medicine 1999;5(8):951-4.
1999: Giovanni Manfredi; N Gupta; M E Vazquez-Memije; James E Sadlock; antonella spinazzola; Darryl C De Vivo; Eric A Schon
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.
The Journal of biological chemistry 1999;274(14):9386-91.
1999: Kurenai Tanji; Tuan H Vu; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.
Annals of neurology 1999;45(3):377-83.
1999: Eduardo Bonilla; K Tanji; Michio Hirano; T H Vu; Salvatore DiMauro; Eric A Schon
Mitochondrial involvement in Alzheimer's disease.
Biochimica et biophysica acta 1999;1410(2):171-82.
1998: M Sciacco; P Gasparo-Rippa; Tuan H Vu; Kurenai Tanji; Sara Shanske; Jerry R Mendell; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
1998: P J Magalhães; A L Andreu; Eric A Schon
Evidence for the presence of 5S rRNA in mammalian mitochondria.
Molecular biology of the cell 1998;9(9):2375-82.
1998: Salvatore DiMauro; Eduardo Bonilla; Mercy Davidson; Michio Hirano; Eric A Schon
Mitochondria in neuromuscular disorders.
Biochimica et biophysica acta 1998;1366(1-2):199-210.
1998: Tuan H Vu; M Sciacco; Kurenai Tanji; C Nichter; Eduardo Bonilla; S Chatkupt; P Maertens; Sara Shanske; Jerry R Mendell; MR Koenigsberger; Leroy R Sharer; Eric A Schon; Salvatore DiMauro; Darryl C DeVivo
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
1998: U A Walker; Eric A Schon
Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations.
Annals of neurology 1998;43(4):536-40.
1998: Eric A Schon; M H Grossman
Mitochondrial diseases: genetics.
BioFactors (Oxford, England) 1998;7(3):191-5.
1998: Eftihia Cayanis; James J Russo; Sergey Kalachikov; X Ye; S H Park; Ivana Sunjevaric; MF Bonaldo; Lee N Lawton; VS Venkatraj; Eric A Schon; MB Soares; Rodney Rothstein; Dorothy Warburton; IS Edelman; P Zhang; Argiris Efstratiadis; SG Fischer
High-resolution YAC-cosmid-STS map of human chromosome 13.
Genomics 1998;47(1):26-43.
1998: R Carrozzo; Michio Hirano; B Fromenty; C Casali; Filippo M Santorelli; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon; Armand F Miranda
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.
Neurology 1998;50(1):99-106.
1997: Michio Hirano; A Shtilbans; Richard Mayeux; Mercy M Davidson; Salvatore DiMauro; James A Knowles; Eric A Schon
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(26):14894-9.
1997: Giovanni Manfredi; Dominic Thyagarajan; Lefkothea C Papadopoulou; Francesco Pallotti; Eric A Schon
The fate of human sperm-derived mtDNA in somatic cells.
American journal of human genetics 1997;61(4):953-60.
1997: B Fromenty; R Carrozzo; Sara Shanske; Eric A Schon
High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.
American journal of medical genetics 1997;71(4):443-52.
1997: J P Masucci; Eric A Schon; Michael P King
Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism.
Molecular and cellular biochemistry 1997;174(1-2):215-9.
1997: Giovanni Manfredi; T Vu; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro; E Arnaudo; L Zhang; Lewis P Rowland; Michio Hirano
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?
Annals of neurology 1997;42(2):180-8.
1997: Eric A Schon; Eduardo Bonilla; Salvatore DiMauro
Mitochondrial DNA mutations and pathogenesis.
Journal of bioenergetics and biomembranes 1997;29(2):131-49.
1996: B Fromenty; Giovanni Manfredi; J Sadlock; L Zhang; Michael P King; Eric A Schon
Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR.
Biochimica et biophysica acta 1996;1308(3):222-30.
1996: Francesco Pallotti; X Chen; Eduardo Bonilla; Eric A Schon
Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.
American journal of human genetics 1996;59(3):591-602.
1996: P Kaufmann; Y Koga; Sara Shanske; Michio Hirano; Salvatore DiMauro; Michael P King; Eric A Schon
Mitochondrial DNA and RNA processing in MELAS.
Annals of neurology 1996;40(2):172-80.
1996: Carlos T Moraes; Eric A Schon
Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR.
Methods in enzymology 1996;264():522-40.
1996: Giovanni Manfredi; Eric A Schon; Eduardo Bonilla; Carlos T Moraes; Sara Shanske; Salvatore DiMauro
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
1995: Giovanni Manfredi; Eric A Schon; Carlos T Moraes; Eduardo Bonilla; G T Berry; J T Sladky; Salvatore DiMauro
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.
Neuromuscular disorders : NMD 1995;5(5):391-8.
1995: X Chen; R Prosser; S Simonetti; J Sadlock; G Jagiello; Eric A Schon
Rearranged mitochondrial genomes are present in human oocytes.
American journal of human genetics 1995;57(2):239-47.
1995: X Chen; Eduardo Bonilla; M Sciacco; Eric A Schon
Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients.
Biochimica et biophysica acta 1995;1271(1):229-33.
1995: J P Masucci; M Davidson; Y Koga; Eric A Schon; Michael P King
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
Molecular and cellular biology 1995;15(5):2872-81.
1995: Giovanni Manfredi; S Servidei; Eduardo Bonilla; Sara Shanske; Eric A Schon; Salvatore DiMauro; Carlos T Moraes
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.
Neurology 1995;45(4):762-8.
1995: Carlos T Moraes; E Ricci; Eric A Schon; M Sciacco; Célia H Tengan; Eduardo Bonilla; H Hao; Salvatore DiMauro
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement 1995;(3):S150-3.
1995: Yasutoshi Koga; Eric A Schon; Mercy Davidson; Michael P King
Analysis of cybrids harboring melas mutations in the mitochondrial tRNA(Leu)(UUR) gene.
Muscle & nerve. Supplement 1995;(3):S119-23.
1995: J P Masucci; Eric A Schon
tRNA processing in human mitochondrial disorders.
Molecular biology reports 1995;22(2-3):187-93.
1995: Carlos T Moraes; M Sciacco; E Ricci; Célia H Tengan; H Hao; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions.
Muscle & nerve. Supplement 1995;3():S150-3.
1995: Y Koga; M Davidson; Eric A Schon; Michael P King
Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene.
Muscle & nerve. Supplement 1995;3():S119-23.
1994: Eric A Schon; Michio Hirano; Salvatore DiMauro
Mitochondrial encephalomyopathies: clinical and molecular analysis.
Journal of bioenergetics and biomembranes 1994;26(3):291-9.
1994: P Zhang; Eric A Schon; SG Fischer; Eftihia Cayanis; J Weiss; S Kistler; Philip Bourne
An algorithm based on graph theory for the assembly of contigs in physical mapping of DNA.
Computer applications in the biosciences : CABIOS 1994;10(3):309-17.
1994: Filippo M Santorelli; Sara Shanske; K D Jain; D Tick; Eric A Schon; Salvatore DiMauro
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology 1994;44(5):972-4.
1994: V Petruzzella; Carlos T Moraes; Mary Sano; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
Human molecular genetics 1994;3(3):449-54.
1994: M Sciacco; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro; Carlos T Moraes
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.
Human molecular genetics 1994;3(1):13-9.
1993: Carlos T Moraes; F Ciacci; Eduardo Bonilla; C Jansen; Michio Hirano; N Rao; R E Lovelace; Lewis P Rowland; Eric A Schon; Salvatore DiMauro
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
The Journal of clinical investigation 1993;92(6):2906-15.
1993: Carlos T Moraes; F Ciacci; Eduardo Bonilla; V Ionasescu; Eric A Schon; Salvatore DiMauro
A mitochondrial tRNA anticodon swap associated with a muscle disease.
Nature genetics 1993;4(3):284-8.
1993: X Chen; J Sadlock; Eric A Schon
RNA-binding patterns in total human tissue proteins: analysis by northwestern blotting.
Biochemical and biophysical research communications 1993;191(1):18-25.
1993: J E Sadlock; R N Lightowlers; R A Capaldi; Eric A Schon
Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase.
Biochimica et biophysica acta 1993;1172(1-2):223-5.
1993: Y Koga; M Davidson; Eric A Schon; Michael P King
Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.
Nucleic acids research 1993;21(3):657-62.
1993: Eric A Schon
Mitochondrial disorders in muscle.
Current opinion in neurology and neurosurgery 1993;6(1):19-26.
1993: Salvatore DiMauro; S Simonetti; X Chen; V Petruzzella; Michio Hirano; Sara Shanske; Carlos T Moraes; Eric A Schon
Mitochondrial dysfunction as a mechanism of CNS injury.
Research publications - Association for Research in Nervous and Mental Disease 1993;71():67-79.
1993: Carlos T Moraes; F Ciacci; G Silvestri; Sara Shanske; M Sciacco; Michio Hirano; Eric A Schon; Eduardo Bonilla; Salvatore DiMauro
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
1992: S Simonetti; X Chen; Salvatore DiMauro; Eric A Schon
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR.
Biochimica et biophysica acta 1992;1180(2):113-22.
1992: G M Fabrizi; J Sadlock; Michio Hirano; S Mita; Y Koga; R Rizzuto; M Zeviani; Eric A Schon
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.
Gene 1992;119(2):307-12.
1992: E Arnaudo; Michio Hirano; R S Seelan; A Milatovich; C L Hsieh; G M Fabrizi; Lawrence I Grossman; Uta Francke; Eric A Schon
Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase.
Gene 1992;119(2):299-305.
1992: A Suomalainen; E Ciafaloni; Y Koga; L Peltonen; Salvatore DiMauro; Eric A Schon
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.
Journal of the neurological sciences 1992;111(2):222-6.
1992: Carlos T Moraes; E Ricci; V Petruzzella; Sara Shanske; Salvatore DiMauro; Eric A Schon; Eduardo Bonilla
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
1992: Eric A Schon; Y Koga; M Davidson; Carlos T Moraes; Michael P King
The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis.
Biochimica et biophysica acta 1992;1101(2):206-9.
1992: V Petruzzella; X Chen; Eric A Schon
Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease.
Biochemical and biophysical research communications 1992;186(1):491-7.
1992: Carlos T Moraes; E Ricci; Eduardo Bonilla; Salvatore DiMauro; Eric A Schon
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.
American journal of human genetics 1992;50(5):934-49.
1992: Michael P King; Y Koga; M Davidson; Eric A Schon
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
Molecular and cellular biology 1992;12(2):480-90.
1991: Eric A Schon
Molecular biology of mitochondrial myopathies.
Rinshō shinkeigaku = Clinical neurology 1991;31(12):1293-300.
1991: Carlos T Moraes; M Zeviani; Eric A Schon; R O Hickman; B W Vlcek; Salvatore DiMauro
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
American journal of medical genetics 1991;41(3):301-5.
1991: F Andreetta; H J Tritschler; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies.
Journal of the neurological sciences 1991;105(1):88-92.
1991: A Lombes; H Nakase; H J Tritschler; B Kadenbach; Eduardo Bonilla; Darryl C DeVivo; Eric A Schon; Salvatore DiMauro
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
Neurology 1991;41(4):491-8.
1991: E Arnaudo; M Dalakas; Sara Shanske; Carlos T Moraes; Salvatore DiMauro; Eric A Schon
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Lancet 1991;337(8740):508-10.
1991: Carlos T Moraes; Sara Shanske; H J Tritschler; June Aprille; F Andreetta; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
1991: Carlos T Moraes; F Andreetta; Eduardo Bonilla; Sara Shanske; Salvatore DiMauro; Eric A Schon
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
1991: H J Tritschler; Eduardo Bonilla; A Lombes; F Andreetta; S Servidei; B Schneyder; Armand F Miranda; Eric A Schon; B Kadenbach; Salvatore DiMauro
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.
Neurology 1991;41(2 ( Pt 1)):300-5.
1991: Salvatore DiMauro; Carlos T Moraes; Sara Shanske; A Lombes; H Nakase; S Mita; H J Tritschler; Eduardo Bonilla; Armand F Miranda; Eric A Schon
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
1990: Salvatore DiMauro; A Lombes; H Nakase; S Mita; G M Fabrizi; H J Tritschler; Eduardo Bonilla; Armand F Miranda; Darryl C DeVivo; Eric A Schon
Cytochrome c oxidase deficiency.
Pediatric research 1990;28(5):536-41.
1990: andrew dwork; T Cavallaro; R L Martone; D S Goodman; Eric A Schon; J Herbert
Distribution of transthyretin in the rat eye.
Investigative ophthalmology & visual science 1990;31(3):489-96.
1990: T Cavallaro; R L Martone; andrew dwork; Eric A Schon; J Herbert
The retinal pigment epithelium is the unique site of transthyretin synthesis in the rat eye.
Investigative ophthalmology & visual science 1990;31(3):497-501.
1990: H Nakase; Carlos T Moraes; R Rizzuto; A Lombes; Salvatore DiMauro; Eric A Schon
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.
American journal of human genetics 1990;46(3):418-27.
1990: S Mita; R Rizzuto; Carlos T Moraes; Sara Shanske; E Arnaudo; G M Fabrizi; Y Koga; Salvatore DiMauro; Eric A Schon
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.
Nucleic acids research 1990;18(3):561-7.
1990: Y Koga; G M Fabrizi; S Mita; E Arnaudo; Margaret I Lomax; M S Aqua; Lawrence I Grossman; Eric A Schon
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase.
Nucleic acids research 1990;18(3):684.
1989: S Mita; B Schmidt; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(23):9509-13.
1989: M S Aqua; Margaret I Lomax; Eric A Schon; Lawrence I Grossman
Nucleotide sequence of a cDNA for bovine cytochrome c oxidase subunit VIIc.
Nucleic acids research 1989;17(20):8376.
1989: G M Fabrizi; R Rizzuto; H Nakase; S Mita; Margaret I Lomax; Lawrence I Grossman; Eric A Schon
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase.
Nucleic acids research 1989;17(17):7107.
1989: G M Fabrizi; R Rizzuto; H Nakase; S Mita; B Kadenbach; Eric A Schon
Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase.
Nucleic acids research 1989;17(15):6409.
1989: R Rizzuto; H Nakase; B Darras; Uta Francke; G M Fabrizi; T Mengel; F Walsh; B Kadenbach; Salvatore DiMauro; Eric A Schon
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues.
The Journal of biological chemistry 1989;264(18):10595-600.
1989: Carlos T Moraes; Eric A Schon; Salvatore DiMauro; Armand F Miranda
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
Biochemical and biophysical research communications 1989;160(2):765-71.
1989: Eric A Schon; R Rizzuto; Carlos T Moraes; H Nakase; M Zeviani; Salvatore DiMauro
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
Science (New York, N.Y.) 1989;244(4902):346-9.
1989: Salvatore DiMauro; M Zeviani; Carlos T Moraes; H Nakase; R Rizzuto; A Lombes; Sara Shanske; Eric A Schon
Mitochondrial encephalomyopathies.
Progress in clinical and biological research 1989;306():117-28.
1988: R L Martone; Eric A Schon; D S Goodman; Dianne Robert Soprano; J Herbert
Retinol-binding protein is synthesized in the mammalian eye.
Biochemical and biophysical research communications 1988;157(3):1078-84.
1988: S Sakoda; Sara Shanske; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family.
The Journal of biological chemistry 1988;263(32):16899-905.
1988: S Mita; J Sadlock; J Herbert; Eric A Schon
A cDNA specifying the human amyloid beta precursor protein (ABPP) encodes a 95-kDa polypeptide.
Nucleic acids research 1988;16(19):9351.
1988: Eduardo Bonilla; Armand F Miranda; A Prelle; G Salviati; R Betto; M Zeviani; Eric A Schon; Salvatore DiMauro; Lewis P Rowland
Immunocytochemical study of nebulin in Duchenne muscular dystrophy.
Neurology 1988;38(10):1600-3.
1988: andrew dwork; Eric A Schon; J Herbert
Nonidentical distribution of transferrin and ferric iron in human brain.
Neuroscience 1988;27(1):333-45.
1988: R Rizzuto; H Nakase; M Zeviani; Salvatore DiMauro; Eric A Schon
Subunit Va of human and bovine cytochrome c oxidase is highly conserved.
Gene 1988;69(2):245-56.
1988: M Zeviani; Carlos T Moraes; Salvatore DiMauro; H Nakase; Eduardo Bonilla; Eric A Schon; Lewis P Rowland
Deletions of mitochondrial DNA in Kearns-Sayre syndrome.
Neurology 1988;38(9):1339-46.
1988: Salvatore DiMauro; M Zeviani; R Rizzuto; A Lombes; H Nakase; Eduardo Bonilla; A Miranda; Eric A Schon
Molecular defects in cytochrome oxidase in mitochondrial diseases.
Journal of bioenergetics and biomembranes 1988;20(3):353-64.
1988: M Zeviani; S Sakoda; A A Sherbany; H Nakase; R Rizzuto; C E Samitt; Salvatore DiMauro; Eric A Schon
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase.
Gene 1988;65(1):1-11.
1988: R L Martone; J Herbert; andrew dwork; Eric A Schon
Transthyretin is synthesized in the mammalian eye.
Biochemical and biophysical research communications 1988;151(2):905-12.
1988: Eric A Schon; Eduardo Bonilla; A Lombes; Carlos T Moraes; H Nakase; R Rizzuto; M Zeviani; Salvatore DiMauro
Clinical and biochemical studies on cytochrome oxidase deficiencies.
Annals of the New York Academy of Sciences 1988;550():348-59.
1988: Salvatore DiMauro; M Zeviani; S Servidei; Alessandro Prelle; Armand F Miranda; Eduardo Bonilla; Eric A Schon
Biochemical and molecular aspects of cytochrome C oxidase deficiency.
Advances in neurology 1988;48():93-105.
1987: Sara Shanske; S Sakoda; M A Hermodson; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
The Journal of biological chemistry 1987;262(30):14612-7.
1987: Salvatore DiMauro; Eduardo Bonilla; M Zeviani; S Servidei; Darryl C DeVivo; Eric A Schon
Mitochondrial myopathies.
Journal of inherited metabolic disease 1987;10 Suppl 1():113-28.
1987: M Zeviani; M Nakagawa; J Herbert; Margaret I Lomax; Lawrence I Grossman; A A Sherbany; A F Miranda; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.
Gene 1987;55(2-3):205-17.
1985: MB Soares; Eric A Schon; A Henderson; S K Karathanasis; R Cate; Scott Zeitlin; J Chirgwin; Argiris Efstratiadis
RNA-mediated gene duplication: the rat preproinsulin I gene is a functional retroposon.
Molecular and cellular biology 1985;5(8):2090-103.
1985: MB Soares; Eric A Schon; Argiris Efstratiadis
Rat LINE1: the origin and evolution of a family of long interspersed middle repetitive DNA elements.
Journal of molecular evolution 1985;22(2):117-33.