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Andrea Ballabio

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Tiziana Bachetti; Andrea Ballabio; Daniele Bani; Patrizio Castagnola; Sabrina Chiesa; Eleonora Di Zanni; Andrea D'Osualdo; Alessandro Fraldi; Marco Gattorno; Alberto Martini; Alessia Omenetti; Roberto Ravazzolo; Isabella Ceccherini
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).
Carmine Settembre; Alessandro Fraldi; Diego L Medina; Andrea Ballabio
Signals from the lysosome: a control centre for cellular clearance and energy metabolism.
Carmine Spampanato; Hossein Zare; Fabio Annunziata; Andrea Ballabio; Monica Cardone; Erin Feeney; Lishu Li; Jeong-A Lim; Giancarlo Parenti; Roman Polishchuk; rosa puertollano; Nina Raben
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.

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All Publications

2013: Tiziana Bachetti; Andrea Ballabio; Daniele Bani; Patrizio Castagnola; Sabrina Chiesa; Eleonora Di Zanni; Andrea D'Osualdo; Alessandro Fraldi; Marco Gattorno; Alberto Martini; Alessia Omenetti; Roberto Ravazzolo; Isabella Ceccherini
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).
Annals of the rheumatic diseases 2013;72(6):1044-52.
2013: Carmine Settembre; Alessandro Fraldi; Diego L Medina; Andrea Ballabio
Signals from the lysosome: a control centre for cellular clearance and energy metabolism.
Nature reviews. Molecular cell biology 2013;14(5):283-96.
2013: Carmine Spampanato; Hossein Zare; Fabio Annunziata; Andrea Ballabio; Monica Cardone; Erin Feeney; Lishu Li; Jeong-A Lim; Giancarlo Parenti; Roman Polishchuk; rosa puertollano; Nina Raben
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
EMBO molecular medicine 2013;5(5):691-706.
2013: Nicolina Cristina Sorrentino; Carmine Spampanato; Andrea Ballabio; Elvira De Leonibus; Luca D'Orsi; Ciro Monaco; Edoardo Nusco; Elena Polishchuk; Paola Saccone; Irene Sambri; Alessandro Fraldi
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
EMBO molecular medicine 2013;5(5):675-90.
2013: Mathieu Ferron; Andrea Ballabio; Shigeaki Kato; Julie Lacombe; David J Rawlings; Carmine Settembre; Junko Shimazu; Gerard Karsenty
A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts.
Genes & development 2013;27(8):955-69.
2013: Nunzia Pastore; Pasquale Piccolo; Elena V Polishchuk; Roman Polishchuk; Jeffrey Teckman; Francesco Vetrini; Fabio Annunziata; Andrea Ballabio; Keith Blomenkamp; Simona Iacobacci; Rosa Maria Sepe; Pratibha Mithbaokar; Philip Ng; Donna Palmer; Nicola Brunetti-Pierri
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
EMBO molecular medicine 2013;5(3):397-412.
2012: Chiara Di Malta; John D Fryer; Carmine Settembre; Andrea Ballabio
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
Autophagy 2012;8(12):1871-2.
2012: Chiara Di Malta; John D Fryer; Carmine Settembre; Andrea Ballabio
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(35):E2334-42.
2012: Vincenzo Gennarino; Margherita Mutarelli; Giorgio Russolillo; Remo Sanges; Marco Sardiello; Pasquale Verde; Vincenzo Belcastro; Giovanni D'Angelo; Gopuraja Dharmalingam; Serena Fernandez; Andrea Ballabio; Sandro Banfi
Identification of microRNA-regulated gene networks by expression analysis of target genes.
Genome research 2012;22(6):1163-72.
2012: Raquel de Pablo-Latorre; Alessandro Fraldi; Edoardo Nusco; Elena V Polishhuck; Assunta Saide; Andrea Ballabio
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
Human molecular genetics 2012;21(8):1770-81.
2012: Carmine Settembre; Michel C Vellard; Francesco Vetrini; Roberto Zoncu; Serkan Erdin; SerpilUckac Erdin; Valeria Facchinetti; Mathieu Ferron; Tuong Huynh; Gerard Karsenty; Diego L Medina; David M Sabatini; Andrea Ballabio
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.
The EMBO journal 2012;31(5):1095-108.
2011: Carmine Settembre; Andrea Ballabio
TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes.
Autophagy 2011;7(11):1379-81.
2011: Michela Palmieri; Carl Pelz; Marco Sardiello; Alberto di Ronza; Soren Impey; Hyojin Kang; Andrea Ballabio
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Human molecular genetics 2011;20(19):3852-66.
2011: Diego L Medina; Michela Palmieri; Antonella Pignata; Roman Polishchuk; rosa puertollano; Claudia Puri; Marco Sardiello; Carmine Spampanato; Valentina Bouche; Alessandro Fraldi; Gelsomina Mansueto; Jose A Martina; Fabio Annunziata; Andrea Ballabio
Transcriptional activation of lysosomal exocytosis promotes cellular clearance.
Developmental cell 2011;21(3):421-30.
2011: Carmine Settembre; Francesco Vetrini; Pasqualina Colella; Chiara Di Malta; Serkan Erdin; Serpil Uckac Erdin; Moises Garcia Arencibia; Tuong Huynh; Diego Medina; Vinicia Assunta Polito; David C Rubinsztein; Marco Sardiello; Andrea Ballabio
TFEB links autophagy to lysosomal biogenesis.
Science (New York, N.Y.) 2011;332(6036):1429-33.
2011: Carmine Spampanato; Elvira De Leonibus; Paola Dama; Annagiusi Gargiulo; Alessandro Fraldi; Nicolina Cristina Sorrentino; Fabio Russo; Edoardo Nusco; Alberto Auricchio; Enrico M Surace; Andrea Ballabio
Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.
Molecular therapy : the journal of the American Society of Gene Therapy 2011;19(5):860-9.
2011: Alessandro Luciani; Valeria R Villella; Speranza Esposito; Nicola Brunetti-Pierri; Diego L Medina; Carmine Settembre; Manuela Gavina; Valeria Raia; Andrea Ballabio; Luigi Maiuri
Cystic fibrosis: a disorder with defective autophagy.
Autophagy 2011;7(1):104-6.
2010: Alessandro Fraldi; Fabio Annunziata; Alessia Lombardi; Hermann-Josef Kaiser; Diego Luis Medina; Carmine Spampanato; Anthony Olind Fedele; Roman Polishchuk; Nicolina Cristina Sorrentino; Kai Simons; Andrea Ballabio
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.
The EMBO journal 2010;29(21):3607-20.
2010: Alessandro Luciani; Valeria Rachela Villella; Speranza Esposito; Nicola Brunetti-Pierri; Diego Medina; Carmine Settembre; Manuela Gavina; Laura Pulze; Ida Giardino; Massimo Pettoello-Mantovani; Maria D'Apolito; Stefano Guido; Eliezer Masliah; Brian Spencer; Sonia Quaratino; Valeria Raia; Andrea Ballabio; Luigi Maiuri
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.
Nature cell biology 2010;12(9):863-75.
2010: Rossella De Cegli; Antonio Romito; Simona Iacobacci; Lei Mao; mario Lauria; Anthony O Fedele; Joachim Klose; Christelle Borel; Patrick Descombes; Stylianos E Antonarakis; Diego di Bernardo; Sandro Banfi; Andrea Ballabio; Gilda Cobellis
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.
Genome biology 2010;11(6):R64.
2010: Antonio Romito; Enza Lonardo; Guglielmo Roma; Gabriella Minchiotti; Andrea Ballabio; Gilda Cobellis
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2.
PloS one 2010;5(2):e9029.
2009: Marco Sardiello; Andrea Ballabio
Lysosomal enhancement: a CLEAR answer to cellular degradative needs.
Cell cycle (Georgetown, Tex.) 2009;8(24):4021-2.
2009: Marco Sardiello; Michela Palmieri; Alberto di Ronza; Diego Luis Medina; Marta Valenza; Vincenzo Gennarino; Chiara Di Malta; Francesca Donaudy; Valerio Embrione; Roman S Polishchuk; Sandro Banfi; Giancarlo Parenti; Elena Cattaneo; Andrea Ballabio
A gene network regulating lysosomal biogenesis and function.
Science (New York, N.Y.) 2009;325(5939):473-7.
2009: Andrea Ballabio; Volkmar Gieselmann
Lysosomal disorders: from storage to cellular damage.
Biochimica et biophysica acta 2009;1793(4):684-96.
2009: Vincenzo Gennarino; Marco Sardiello; Raffaella Avellino; Nicola Meola; Vincenza Maselli; Santosh Anand; Luisa Cutillo; Andrea Ballabio; Sandro Banfi
MicroRNA target prediction by expression analysis of host genes.
Genome research 2009;19(3):481-90.
2009: Andrea Ballabio
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.
International journal of clinical pharmacology and therapeutics 2009;47 Suppl 1():S34-8.
2008: Ilaria Palmisano; Paola Bagnato; Angela Palmigiano; Giulio Innamorati; Giuseppe Rotondo; Domenico Altimare; Consuelo Venturi; Elena V Sviderskaya; Rosanna Piccirillo; Massimiliano Coppola; Valeria Marigo; Barbara Incerti; Andrea Ballabio; Enrico M Surace; Carlo Tacchetti; Dorothy C Bennett; Maria Vittoria Schiaffino
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
Human molecular genetics 2008;17(22):3487-501.
2008: Alessandro Fraldi; Ester Zito; Fabio Annunziata; Alessia Lombardi; Marianna Cozzolino; Maria Monti; Carmine Spampanato; Andrea Ballabio; Piero Pucci; Roberto Sitia; Maria Pia Cosma
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Human molecular genetics 2008;17(17):2610-21.
2008: Andrea Ballabio; Stylianos Antonarakis
Welcome to PathoGenetics.
PathoGenetics 2008;1(1):1.
2008: Marco Sardiello; Stefano Cairo; Bianca Fontanella; Andrea Ballabio; Germana Meroni
Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties.
BMC evolutionary biology 2008;8():225.
2008: Carmine Settembre; Alessandro Fraldi; David C Rubinsztein; Andrea Ballabio
Lysosomal storage diseases as disorders of autophagy.
Autophagy 2008;4(1):113-4.
2008: Carmine Settembre; Alessandro Fraldi; Luca Jahreiss; Carmine Spampanato; Consuelo Venturi; Diego Medina; Raquel de Pablo; Carlo Tacchetti; David C Rubinsztein; Andrea Ballabio
A block of autophagy in lysosomal storage disorders.
Human molecular genetics 2008;17(1):119-29.
2007: Alessandro Fraldi; Kim Hemsley; Allison Crawley; Alessia Lombardi; Adeline Lau; Leanne Sutherland; Alberto Auricchio; Andrea Ballabio; John J Hopwood
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Human molecular genetics 2007;16(22):2693-702.
2007: A Capotondo; M Cesani; Stefano Pepe; Stefania Fasano; Silvia Gregori; L Tononi; Mary Anna Venneri; Riccardo Brambilla; Angelo Quattrini; Andrea Ballabio; Maria Pia Cosma; Luigi Naldini; Alessandra Biffi
Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.
Human gene therapy 2007;18(9):821-36.
2007: Ida Annunziata; Valentina Bouchè; Alessia Lombardi; Carmine Settembre; Andrea Ballabio
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Human mutation 2007;28(9):928.
2007: Maria Pia Sperandeo; Patrizia Annunziata; Andrea Bozzato; Pasquale Piccolo; Luigi Maiuri; Maria D'Armiento; Andrea Ballabio; Gaetano Corso; Generoso Andria; Giuseppe Borsani; Gianfranco Sebastio
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
American journal of physiology. Cell physiology 2007;293(1):C191-8.
2007: Ester Zito; Mario Buono; Stefano Pepe; Carmine Settembre; Ida Annunziata; Enrico M Surace; Thomas Dierks; Maria Monti; Marianna Cozzolino; Piero Pucci; Andrea Ballabio; Maria Pia Cosma
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
The EMBO journal 2007;26(10):2443-53.
2007: Anthony Olind Fedele; Mirella Filocamo; Maja Di Rocco; Giovanna Sersale; Torben Lübke; Paola Di Natale; Maria Pia Cosma; Andrea Ballabio
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Human mutation 2007;28(5):523.
2007: Alessandro Fraldi; Alessandra Biffi; Alessia Lombardi; Ilaria Visigalli; Stefano Pepe; Carmine Settembre; Edoardo Nusco; Alberto Auricchio; Luigi Naldini; Andrea Ballabio; Maria Pia Cosma
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
The Biochemical journal 2007;403(2):305-12.
2007: Annagiusi Gargiulo; Renata Auricchio; Maria Vittoria Barone; Gabriella Cotugno; William Reardon; Peter J Milla; Andrea Ballabio; Alfredo Ciccodicola; Alberto Auricchio
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
American journal of human genetics 2007;80(4):751-8.
2007: Carmine Settembre; Ida Annunziata; Carmine Spampanato; Daniela Zarcone; Gilda Cobellis; Edoardo Nusco; Ester Zito; Carlo Tacchetti; Maria Pia Cosma; Andrea Ballabio
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(11):4506-11.
2007: Giancarlo Parenti; Alfredo Zuppaldi; M Gabriela Pittis; M Rosaria Tuzzi; Ida Annunziata; Germana Meroni; Caterina Porto; Francesca Donaudy; Barbara Rossi; Massimiliano Rossi; Mirella Filocamo; Alice Donati; Bruno Bembi; Andrea Ballabio; Generoso Andria
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(3):508-14.
2006: Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
American journal of human genetics 2006;79(5):878-89.
2006: Brunella Franco; Andrea Ballabio
X-inactivation and human disease: X-linked dominant male-lethal disorders.
Current opinion in genetics & development 2006;16(3):254-9.
2006: Francesco Vetrini; Roberta Tammaro; Sergio Bondanza; Enrico M Surace; Alberto Auricchio; Michele De Luca; Andrea Ballabio; Valeria Marigo
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
Human mutation 2006;27(5):420-6.
2006: Monica Cardone; Vinicia Assunta Polito; Stefano Pepe; Linda Mann; Alessandra d'Azzo; Alberto Auricchio; Andrea Ballabio; Maria Pia Cosma
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Human molecular genetics 2006;15(7):1225-36.
2005: Katia Cortese; Francesca Giordano; Enrico M Surace; Consuelo Venturi; Andrea Ballabio; Carlo Tacchetti; Valeria Marigo
The ocular albinism type 1 (OA1) gene controls melanosome maturation and size.
Investigative ophthalmology & visual science 2005;46(12):4358-64.
2005: Marco Sardiello; Ida Annunziata; G Roma; Andrea Ballabio
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Human molecular genetics 2005;14(21):3203-17.
2005: Enrico M Surace; Luciano Domenici; Katia Cortese; Gabriella Cotugno; Umberto Di Vicino; Consuelo Venturi; Alessandro Cellerino; Valeria Marigo; Carlo Tacchetti; Andrea Ballabio; Alberto Auricchio
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(4):652-8.
2005: Manuela Morleo; Tiziano Pramparo; Lucia Perone; Giuliana Gregato; Cédric Le Caignec; Robert F Mueller; Tsutomu Ogata; Annick Raas-Rothschild; Marie-Christine De Blois; Louise C Wilson; Gerald Zaidman; Orsetta Zuffardi; Andrea Ballabio; Brunella Franco
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.
American journal of medical genetics. Part A 2005;137(2):190-8.
2005: Ester Zito; Alessandro Fraldi; Stefano Pepe; Ida Annunziata; Gary P Kobinger; Paola Di Natale; Andrea Ballabio; Maria Pia Cosma
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.
EMBO reports 2005;6(7):655-60.
2005: Graciana Diez-Roux; Andrea Ballabio
Sulfatases and human disease.
Annual review of genomics and human genetics 2005;6():355-79.
2005: Gilda Cobellis; Giancarlo Nicolaus; Mariangela Iovino; Antonio Romito; Emanuele Marra; Manlio Barbarisi; Marco Sardiello; Francesco P Di Giorgio; Nicola Iovino; Massimo Zollo; Andrea Ballabio; Riccardo Cortese
Tagging genes with cassette-exchange sites.
Nucleic acids research 2005;33(4):e44.
2005: Angelo Boccia; Mauro Petrillo; Diego di Bernardo; Alessandro Guffanti; Flavio Mignone; Stefano Confalonieri; Lucilla Luzi; Graziano Pesole; Giovanni Paolella; Andrea Ballabio; Sandro Banfi
DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
Nucleic acids research 2005;33(Database issue):D505-10.
2004: Francesco Vetrini; Alberto Auricchio; Jinyan Du; Barbara Angeletti; David E Fisher; Andrea Ballabio; Valeria Marigo
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.
Molecular and cellular biology 2004;24(15):6550-9.
2004: Paola Ferrante; Silvia Messali; Andrea Ballabio; Germana Meroni
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
Gene 2004;336(2):155-61.
2004: Maria Pia Cosma; Stefano Pepe; Giancarlo Parenti; Carmine Settembre; Ida Annunziata; Richard Wade-Martins; Carmela Di Domenico; Paola Di Natale; Anuj Mankad; Barbara Cox; Graziella Uziel; Grazia M S Mancini; Enrico Zammarchi; Maria Alice Donati; Wim J Kleijer; Mirella Filocamo; Romeo Carrozzo; Massimo Carella; Andrea Ballabio
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Human mutation 2004;23(6):576-81.
2004: Eugenio Monti; Maria Teresa Bassi; Roberto Bresciani; S Civini; Gianluigi Croci; Nadia Papini; M Riboni; G Zanchetti; Andrea Ballabio; Augusto Preti; Guido Tettamanti; Bruno Venerando; Giuseppe Borsani
Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.
Genomics 2004;83(3):445-53.
2004: Fatima Ferreirinha; Angelo Quattrini; Marinella Pirozzi; Valentina Valsecchi; Giorgia Dina; Vania Broccoli; Alberto Auricchio; Fiorella Piemonte; Giulia Tozzi; Laura Gaeta; Giorgio Casari; Andrea Ballabio; Elena I Rugarli
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
The Journal of clinical investigation 2004;113(2):231-42.
2003: Luigia Atorino; Laura Silvestri; Mirko Koppen; Laura Cassina; Andrea Ballabio; Roberto Marconi; Thomas Langer; Giorgio Casari
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
The Journal of cell biology 2003;163(4):777-87.
2003: Francesca De Falco; Silvia Cainarca; Gennaro Andolfi; Rosa Ferrentino; caterina berti; German Rodríguez Criado; Olaf Rittinger; Nick Dennis; Sylvie Odent; Amit Rastogi; Jan Liebelt; David Chitayat; Robin Winter; Harindar Jawanda; Andrea Ballabio; Brunella Franco; Germana Meroni
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
American journal of medical genetics. Part A 2003;120A(2):222-8.
2003: Maria Pia Cosma; Stefano Pepe; Ida Annunziata; Robert F Newbold; Markus Grompe; Giancarlo Parenti; Andrea Ballabio
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Cell 2003;113(4):445-56.
2003: Roberto Marconi; Maurizio De Fusco; paolo aridon; Katrin Plewnia; Maja Rossi; Sadia Carapelli; Andrea Ballabio; Letterio Morgante; Rosa Musolino; Antonio Epifanio; Giuseppe Micieli; Giuseppe De Michele; Giorgio Casari
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
Annals of neurology 2003;53(3):376-81.
2003: Nicola Brunetti-Pierri; Michele Andreucci; Rosaria Tuzzi; Giovanna Roberta Vega; George Gray; Carol McKeown; Andrea Ballabio; Generoso Andria; Germana Meroni; Giancarlo Parenti
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
American journal of medical genetics. Part A 2003;117A(2):164-8.
2003: Barbara Angeletti; Jana Löster; Alberto Auricchio; Florian Gekeler; Kei Shinoda; Andrea Ballabio; Jochen Graw; Valeria Marigo
An in vivo doxycycline-controlled expression system for functional studies of the retina.
Investigative ophthalmology & visual science 2003;44(2):755-60.
2003: Maurizio De Fusco; Roberto Marconi; Laura Silvestri; Luigia Atorino; Luca Rampoldi; Letterio Morgante; Andrea Ballabio; paolo aridon; Giorgio Casari
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Nature genetics 2003;33(2):192-6.
2002: Alexandre Reymond; Valeria Marigo; Murat B Yaylaoglu; Antonio Leoni; Catherine Ucla; Nathalie Scamuffa; Cristina Caccioppoli; Emmanouil T Dermitzakis; Robert Lyle; Sandro Banfi; Gregor Eichele; Stylianos E Antonarakis; Andrea Ballabio
Human chromosome 21 gene expression atlas in the mouse.
Nature 2002;420(6915):582-6.
2002: Paola Ferrante; Silvia Messali; Germana Meroni; Andrea Ballabio
Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
European journal of human genetics : EJHG 2002;10(12):813-8.
2002: Nicola Brunetti-Pierri; Gaetano Corso; Massimiliano Rossi; Paola Ferrari; Fiorella Balli; Francesco Rivasi; Ida Annunziata; Andrea Ballabio; Antonio Dello Russo; Generoso Andria; Giancarlo Parenti
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
American journal of human genetics 2002;71(4):952-8.
2002: Maria Vittoria Schiaffino; Elena Dellambra; Katia Cortese; Cinzia Baschirotto; Sergio Bondanza; Maurizio Clementi; Paolo Nucci; Andrea Ballabio; Carlo Tacchetti; Michele De Luca
Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes.
Human gene therapy 2002;13(8):947-57.
2002: caterina berti; Silvia Messali; Andrea Ballabio; Alexandre Reymond; Germana Meroni
TRIM9 is specifically expressed in the embryonic and adult nervous system.
Mechanisms of development 2002;113(2):159-62.
2002: Elena I Rugarli; Elia Di Schiavi; Massimo A Hilliard; Salvatore Arbucci; Cristina Ghezzi; Anna Facciolli; Giuseppe Coppola; Andrea Ballabio; Paolo Bazzicalupo
The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching.
Development (Cambridge, England) 2002;129(5):1283-94.
2002: Anna Maria Barbieri; Vania Broccoli; Paola Bovolenta; Giovanna Alfano; Anna Marchitiello; Cristina Mocchetti; Luca Crippa; Alessandro Bulfone; Valeria Marigo; Andrea Ballabio; Sandro Banfi
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma.
Development (Cambridge, England) 2002;129(3):805-13.
2002: Alessia Errico; Andrea Ballabio; Elena I Rugarli
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Human molecular genetics 2002;11(2):153-63.
2002: Anneke I den Hollander; Michela Ghiani; Yvette J M de Kok; Jan Wijnholds; Andrea Ballabio; Frans P M Cremers; Vania Broccoli
Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain.
Mechanisms of development 2002;110(1-2):203-7.
2001: Anne Forus; Anna D'Angelo; Jørn Henriksen; Giuseppe Merla; Gunhild M Maelandsmo; Vivi Ann Flørenes; Stefano Olivieri; Bodil Bjerkehagen; Leonardo A. Meza-Zepeda; F del Vecchio Blanco; C Müller; Francesca Sanvito; J Kononen; Jahn M Nesland; Øystein Fodstad; Alexandre Reymond; Olli Kallioniemi; Gianluigi Arrigoni; Andrea Ballabio; Ola Myklebost; Massimo Zollo
Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity.
Oncogene 2001;20(47):6881-90.
2001: Hulya Kayserili; Timothy C Cox; Liza L Cox; Seher Basaran; G Kiliç; Andrea Ballabio; Memnune Yüksel-Apak
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).
Journal of medical genetics 2001;38(6):411-7.
2001: Alexandre Reymond; Germana Meroni; A Fantozzi; Giuseppe Merla; Stefano Cairo; Lucilla Luzi; Daniela Riganelli; E Zanaria; Silvia Messali; Silvia Cainarca; Alessandro Guffanti; Saverio Minucci; Pier Giuseppe Pelicci; Andrea Ballabio
The tripartite motif family identifies cell compartments.
The EMBO journal 2001;20(9):2140-51.
2001: Wasim Ahmad; S Noci; M Faiyaz ul Haque; T Sarno; paolo aridon; M M Ahmad; Muhammad Amin-Ud-Din; Muhammad Arshad Rafiq; S ul Haque; Maurizio De Fusco; Andrea Ballabio; Brunella Franco; Giorgio Casari
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.
American journal of medical genetics 2001;100(1):62-5.
2001: Stefano Cairo; Giuseppe Merla; F Urbinati; Andrea Ballabio; Alexandre Reymond
WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.
Human molecular genetics 2001;10(6):617-27.
2001: M I Ferrante; Giovanna Giorgio; Sally A Feather; Alessandro Bulfone; Victoria Wright; Michela Ghiani; A Selicorni; L Gammaro; F Scolari; Adrian S Woolf; O Sylvie; L Bernard; Sue Malcolm; R Winter; Andrea Ballabio; Brunella Franco
Identification of the gene for oral-facial-digital type I syndrome.
American journal of human genetics 2001;68(3):569-76.
2001: Mariona Font; Lidia Feliubadaló; X Estivill; Virginia Nunes; E Golomb; Y Kreiss; Elon Pras; Luigi Bisceglia; A P d'Adamo; Leopoldo Zelante; Paolo Gasparini; Maria Teresa Bassi; A L George ; Marta Manzoni; M Riboni; Andrea Ballabio; Giuseppe Borsani; Núria Reig; Esperanza Fernández; Antonio Zorzano; Joan Bertran; Manuel Palacín
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Human molecular genetics 2001;10(4):305-16.
2001: Maria Teresa Bassi; A A Bergen; P Bitoun; S J Charles; Maurizio Clementi; R Gosselin; J Hurst; R A Lewis; B Lorenz; T Meitinger; Ludwine MESSIAEN; Rajkumar Ramesar; Andrea Ballabio; Maria Vittoria Schiaffino
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Human genetics 2001;108(1):51-4.
2000: Marilena D'Addio; A Pizzigoni; Maria Teresa Bassi; Cinzia Baschirotto; Caterina Valetti; B Incerti; Maurizio Clementi; Michele De Luca; Andrea Ballabio; Maria Vittoria Schiaffino
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
Human molecular genetics 2000;9(20):3011-8.
2000: Enrico M Surace; Barbara Angeletti; Andrea Ballabio; Valeria Marigo
Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.
Investigative ophthalmology & visual science 2000;41(13):4333-7.
2000: B Incerti; Katia Cortese; A Pizzigoni; Enrico M Surace; S Varani; M Coppola; G Jeffery; Mathias W Seeliger; Gesine B Jaissle; D C Bennett; Valeria Marigo; Maria Vittoria Schiaffino; Carlo Tacchetti; Andrea Ballabio
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
Human molecular genetics 2000;9(19):2781-8.
2000: Maurizio De Fusco; Andrea Becchetti; A Patrignani; Grazia Annesi; Antonio Gambardella; Aldo Quattrone; Andrea Ballabio; Enzo Wanke; Giorgio Casari
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
Nature genetics 2000;26(3):275-6.
2000: G Buchner; Vania Broccoli; Alessandro Bulfone; Ugo Orfanelli; C Gattuso; Andrea Ballabio; Brunella Franco
MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives.
Mechanisms of development 2000;98(1-2):179-82.
2000: Maria Teresa Bassi; Marta Manzoni; Eugenio Monti; M T Pizzo; Andrea Ballabio; Giuseppe Borsani
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.
American journal of human genetics 2000;67(5):1110-20.
2000: Germana Meroni; Stefano Cairo; Giuseppe Merla; Silvia Messali; R Brent; Andrea Ballabio; Alexandre Reymond
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?
Oncogene 2000;19(29):3266-77.
2000: Eugenio Monti; Maria Teresa Bassi; Nadia Papini; M Riboni; Marta Manzoni; Bruno Venerando; Gianluigi Croci; Augusto Preti; Andrea Ballabio; Guido Tettamanti; Giuseppe Borsani
Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.
The Biochemical journal 2000;349(Pt 1):343-51.
2000: Alessandro Bulfone; E Menguzzato; Vania Broccoli; Anna Marchitiello; C Gattuso; Margherita Mariani; G Giacomo Consalez; S Martinez; Andrea Ballabio; Sandro Banfi
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.
Human molecular genetics 2000;9(9):1443-52.
2000: G Buchner; Ugo Orfanelli; NA Quaderi; Maria Teresa Bassi; Gennaro Andolfi; Andrea Ballabio; Brunella Franco
Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.
Genomics 2000;65(1):16-23.
2000: Maria Pia Sperandeo; Maria Teresa Bassi; M Riboni; Giancarlo Parenti; A Buoninconti; Marta Manzoni; B Incerti; M R Larocca; Maja Di Rocco; Pietro Strisciuglio; Irma Dianzani; Rossella Parini; M Candito; F Endo; Andrea Ballabio; Generoso Andria; Gianfranco Sebastio; Giuseppe Borsani
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
American journal of human genetics 2000;66(1):92-9.
1999: Alexandre Reymond; Sara Volorio; Giuseppe Merla; M Al-Maghtheh; Orsetta Zuffardi; Alessandro Bulfone; Andrea Ballabio; Massimo Zollo
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.
Oncogene 1999;18(51):7244-52.
1999: Maria Teresa Bassi; Maria Pia Sperandeo; B Incerti; Alessandro Bulfone; A Pepe; Enrico M Surace; C Gattuso; A De Grandi; A Buoninconti; M Riboni; Marta Manzoni; Generoso Andria; Andrea Ballabio; Giuseppe Borsani; Gianfranco Sebastio
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Genomics 1999;62(2):297-303.
1999: Eugenio Monti; Augusto Preti; C Nesti; Andrea Ballabio; Giuseppe Borsani
Expression of a novel human sialidase encoded by the NEU2 gene.
Glycobiology 1999;9(12):1313-21.
1999: G Buchner; Maria Teresa Bassi; Gennaro Andolfi; Andrea Ballabio; Brunella Franco
Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region.
Genomics 1999;62(1):113-8.
1999: Wasim Ahmad; Maurizio De Fusco; M Faiyaz ul Haque; paolo aridon; T Sarno; M Sohail; S ul Haque; M Ahmad; Andrea Ballabio; Brunella Franco; Giorgio Casari
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
European journal of human genetics : EJHG 1999;7(7):828-32.
1999: A M Barbieri; Giuseppe Lupo; Alessandro Bulfone; Massimiliano Andreazzoli; Margherita Mariani; F Fougerousse; G Giacomo Consalez; Giuseppe Borsani; Jacques Beckmann; Giuseppina Barsacchi; Andrea Ballabio; Sandro Banfi
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(19):10729-34.
1999: Maria Vittoria Schiaffino; Marilena D'Addio; A Alloni; Cinzia Baschirotto; Caterina Valetti; Katia Cortese; Claudia Puri; Maria Teresa Bassi; C Colla; Michele De Luca; Carlo Tacchetti; Andrea Ballabio
Ocular albinism: evidence for a defect in an intracellular signal transduction system.
Nature genetics 1999;23(1):108-12.
1999: G Buchner; Eugenio Montini; Gennaro Andolfi; NA Quaderi; Silvia Cainarca; Silvia Messali; Maria Teresa Bassi; Andrea Ballabio; Germana Meroni; Brunella Franco
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.
Human molecular genetics 1999;8(8):1397-407.
1999: Silvia Cainarca; Silvia Messali; Andrea Ballabio; Germana Meroni
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.
Human molecular genetics 1999;8(8):1387-96.
1999: Siddharth K Prakash; Ignatia B Van den Veyver; Brunella Franco; M Volta; Andrea Ballabio; Huda Y Zoghbi
Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.
Genomics 1999;59(1):77-84.
1999: Sandro Banfi; Maria Teresa Bassi; Gennaro Andolfi; Anna Marchitiello; S Zanotta; Andrea Ballabio; G Casari; Brunella Franco
Identification and characterization of AFG3L2, a novel paraplegin-related gene.
Genomics 1999;59(1):51-8.
1999: Alessandro Bulfone; S Martinez; Valeria Marigo; Marilena Campanella; A Basile; NA Quaderi; C Gattuso; John L R Rubenstein; Andrea Ballabio
Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development.
Mechanisms of development 1999;84(1-2):133-8.
1999: Francesco Scolari; D Puzzer; Antonio Amoroso; Gianluca Caridi; Gian Marco Ghiggeri; Rosario Maiorca; paolo aridon; Maurizio De Fusco; Andrea Ballabio; Giorgio Casari
Identification of a new locus for medullary cystic disease, on chromosome 16p12.
American journal of human genetics 1999;64(6):1655-60.
1999: Maria Teresa Bassi; Rajkumar Ramesar; B Caciotti; I M Winship; A De Grandi; M Riboni; P L Townes; Peter Beighton; Andrea Ballabio; Giuseppe Borsani
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
American journal of human genetics 1999;64(6):1604-16.
1999: Eugenio Montini; G Buchner; C Spalluto; Gennaro Andolfi; A Caruso; Johan T den Dunnen; Dorothy Trump; Mariano Rocchi; Andrea Ballabio; Brunella Franco
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22.
Genomics 1999;58(1):65-72.
1999: Eugenio Monti; Augusto Preti; E Rossi; Andrea Ballabio; Giuseppe Borsani
Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.
Genomics 1999;57(1):137-43.
1999: Giuseppe Borsani; Maria Teresa Bassi; Maria Pia Sperandeo; A De Grandi; A Buoninconti; M Riboni; Marta Manzoni; B Incerti; A Pepe; Generoso Andria; Andrea Ballabio; Gianfranco Sebastio
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Nature genetics 1999;21(3):297-301.
1999: Renzo Guerrini; Paolo Bonanni; N Nardocci; Lucio Parmeggiani; M Piccirilli; Maurizio De Fusco; paolo aridon; Andrea Ballabio; Rosalba Carrozzo; Giorgio Casari
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
Annals of neurology 1999;45(3):344-52.
1999: Giovanni Lavorgna; Alessandro Guffanti; Giuseppe Borsani; Andrea Ballabio; E Boncinelli
TargetFinder: searching annotated sequence databases for target genes of transcription factors.
Bioinformatics (Oxford, England) 1999;15(2):172-3.
1999: A Fogli; Renzo Guerrini; Francesca Moro; E Fernandez-Alvarez; M O Livet; A Renieri; M Cioni; Daniela T Pilz; Pierangelo Veggiotti; E Rossi; Andrea Ballabio; Rosalba Carrozzo
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Annals of neurology 1999;45(2):154-61.
1999: M Volta; Alessandro Bulfone; C Gattuso; E Rossi; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Andrea Ballabio; Sandro Banfi; Brunella Franco
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.
Genomics 1999;55(1):68-77.
1999: Giuseppe Borsani; A DeGrandi; Andrea Ballabio; Alessandro Bulfone; L Bernard; Sandro Banfi; C Gattuso; Margherita Mariani; M Dixon; D Donnai; K Metcalfe; R Winter; M Robertson; RA Axton; A Brown; Veronica van Heyningen; Isabel M Hanson
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
Human molecular genetics 1999;8(1):11-23.
1998: Alessandro Bulfone; C Gattuso; Anna Marchitiello; Celia Pardini; E Boncinelli; Giuseppe Borsani; Sandro Banfi; Andrea Ballabio
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function.
Human molecular genetics 1998;7(13):1997-2006.
1998: K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics 1998;63(3):703-10.
1998: Eugenio Montini; Gennaro Andolfi; A Caruso; G Buchner; SM Walpole; Margherita Mariani; G Giacomo Consalez; Dorothy Trump; Andrea Ballabio; Brunella Franco
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
Genomics 1998;51(3):427-33.
1998: L de Conciliis; Anna Marchitiello; M C Wapenaar; Giuseppe Borsani; S Giglio; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Brunella Franco; Andrea Ballabio; Sandro Banfi
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
Genomics 1998;51(2):243-50.
1998: Timothy C Cox; Liza L Cox; Andrea Ballabio
A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.
European journal of human genetics : EJHG 1998;6(4):406-12.
1998: Giuseppe De Michele; Maurizio De Fusco; F Cavalcanti; Alessandro Filla; Roberto Marconi; Giampiero Volpe; Antonella Monticelli; Andrea Ballabio; Giorgio Casari; Sergio Cocozza
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
American journal of human genetics 1998;63(1):135-9.
1998: Giorgio Casari; Maurizio De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; Roberto Marconi; Alexandra Dürr; B Fontaine; Andrea Ballabio
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
Cell 1998;93(6):973-83.
1998: C Lo Nigro; T Venesio; Alexandre Reymond; Germana Meroni; P Alberici; Silvia Cainarca; F Enrico; M Stack; David Ledbetter; D S Liscia; Andrea Ballabio; Rosalba Carrozzo
The human ROX gene: genomic structure and mutation analysis in human breast tumors.
Genomics 1998;49(2):275-82.
1998: AA Puca; Vincenzo Nigro; Giulio Piluso; A Belsito; Simone Sampaolo; NA Quaderi; E Rossi; Giuseppe Di Iorio; Andrea Ballabio; Brunella Franco
Identification and characterization of a novel member of the dystrobrevin gene family.
FEBS letters 1998;425(1):7-13.
1998: Silvia Bione; Cinzia Sala; C Manzini; Giulia Arrigo; Orsetta Zuffardi; S Banfi; Giuseppe Borsani; P Jonveaux; C Philippe; Maurizio Zuccotti; Andrea Ballabio; Daniela Toniolo
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
American journal of human genetics 1998;62(3):533-41.
1998: A Daniele; Giancarlo Parenti; Marilena D'Addio; Generoso Andria; Andrea Ballabio; Germana Meroni
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
American journal of human genetics 1998;62(3):562-72.
1998: L Dal Zotto; NA Quaderi; R Elliott; P A Lingerfelter; Laura Carrel; V Valsecchi; Eugenio Montini; C H Yen; Verne M Chapman; I Kalcheva; Giulia Arrigo; Orsetta Zuffardi; S Thomas; Huntington F Willard; Andrea Ballabio; Christine M Disteche; Elena I Rugarli
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.
Human molecular genetics 1998;7(3):489-99.
1998: Sara Volorio; G Simon; M Repetto; M Cucciardi; Sandro Banfi; Giuseppe Borsani; Andrea Ballabio; Massimo Zollo
Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein.
DNA sequence : the journal of DNA sequencing and mapping 1998;9(5-6):307-15.
1998: Giuseppe Borsani; Andrea Ballabio; Sandro Banfi
A practical guide to orient yourself in the labyrinth of genome databases.
Human molecular genetics 1998;7(10):1641-8.
1997: Giancarlo Parenti; P Buttitta; Germana Meroni; Brunella Franco; L Bernard; M G Rizzolo; Nicola Brunetti-Pierri; Andrea Ballabio; Generoso Andria
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
American journal of medical genetics 1997;73(2):139-43.
1997: C Valsecchi; C Ghezzi; Andrea Ballabio; Elena I Rugarli
JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions.
Mechanisms of development 1997;69(1-2):203-7.
1997: Esther van de Vosse; Brunella Franco; Paola van der Bent - Klootwijk; Eugenio Montini; Ulrike Orth; A Hanauer; Nel Tijmes; Gert-Jan B van Ommen; Andrea Ballabio; Johan T den Dunnen; Arthur A B Bergen
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.
Human genetics 1997;101(2):235-7.
1997: NA Quaderi; Susann Schweiger; K Gaudenz; Brunella Franco; Elena I Rugarli; Wolfgang Berger; G J Feldman; M Volta; Gennaro Andolfi; S Gilgenkrantz; Robert W Marion; Raoul Hennekam; John M Opitz; Maximilian Muenke; Hans-Hilger Ropers; Andrea Ballabio
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Nature genetics 1997;17(3):285-91.
1997: DA Adler; Elena I Rugarli; PA Lingenfelter; K Tsuchiya; Diane Poslinski; H Denny Liggitt; Verne M Chapman; Rosemary W Elliott; Andrea Ballabio; Christine M Disteche
Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(17):9244-8.
1997: GB Ferrero; Marinella Gebbia; Giuseppe Pilia; Deborah Witte; Andrea M Peier; R J Hopkin; William J Craigen; Lisa Shaffer; David Schlessinger; Andrea Ballabio; Brett Casey
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
American journal of human genetics 1997;61(2):395-401.
1997: Eugenio Montini; Elena I Rugarli; Esther van de Vosse; Gennaro Andolfi; Margherita Mariani; AA Puca; G Giacomo Consalez; Johan T den Dunnen; Andrea Ballabio; Brunella Franco
A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.
Human molecular genetics 1997;6(7):1137-45.
1997: F Rubboli; Alessandro Bulfone; S Bogni; Anna Marchitiello; Massimo Zollo; Giuseppe Borsani; Andrea Ballabio; Sandro Banfi
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms.
Genes and function 1997;1(3):205-13.
1997: Giancarlo Parenti; Germana Meroni; Andrea Ballabio
The sulfatase gene family.
Current opinion in genetics & development 1997;7(3):386-91.
1997: AA Puca; Massimo Zollo; M Repetto; Gennaro Andolfi; Alessandro Guffanti; G Simon; Andrea Ballabio; Brunella Franco
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.
Genomics 1997;42(2):192-9.
1997: Germana Meroni; Alexandre Reymond; M Alcalay; Giuseppe Borsani; A Tanigami; R Tonlorenzi; C Lo Nigro; Silvia Messali; Massimo Zollo; David Ledbetter; R Brent; Andrea Ballabio; Rosalba Carrozzo
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
The EMBO journal 1997;16(10):2892-906.
1997: Alessandro Guffanti; Sandro Banfi; G Simon; Andrea Ballabio; Giuseppe Borsani
DRES search engine: of flies, men and ESTs.
Trends in genetics : TIG 1997;13(2):79-80.
1997: Sandro Banfi; Giuseppe Borsani; Alessandro Bulfone; Andrea Ballabio
Drosophila-related expressed sequences.
Human molecular genetics 1997;6(10):1745-53.
1997: M Repetto; Andrea Ballabio; Massimo Zollo
A method to direct sequence cosmid LAWRIST16 clones.
DNA sequence : the journal of DNA sequencing and mapping 1997;7(3-4):229-33.