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Massimo Pandolfo

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Aurore Hick; Laurie Lambot; Nadia Messaddeq; Massimo Pandolfo; Christopher E Pearson; Cécile André; Satyan Chintawar; David Gall; Myriam Rai; Laurence Reutenauer; Serge N Schiffmann; Jodie P Simard; Marius Teletin; Philippe Tropel; Nadège Vaucamps; Stéphane Viville; Marie Wattenhofer-Donzé; Hélène Puccio
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Alain Martelli; Nadia Messaddeq; Massimo Pandolfo; Susan L Perlman; Kathrin Fedosov; Lisa S Friedman; David R Lynch; Laurence Reutenauer; Jörg B Schulz; Hélène Puccio
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Daniele Marmolino; Mario Manto; Fabio Acquaviva; Paola Vergara; Ajay Ravella; Antonella Monticelli; Massimo Pandolfo
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.

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All Publications

2013: Aurore Hick; Laurie Lambot; Nadia Messaddeq; Massimo Pandolfo; Christopher E Pearson; Cécile André; Satyan Chintawar; David Gall; Myriam Rai; Laurence Reutenauer; Serge N Schiffmann; Jodie P Simard; Marius Teletin; Philippe Tropel; Nadège Vaucamps; Stéphane Viville; Marie Wattenhofer-Donzé; Hélène Puccio
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Disease models & mechanisms 2013;6(3):608-21.
2012: Alain Martelli; Nadia Messaddeq; Massimo Pandolfo; Susan L Perlman; Kathrin Fedosov; Lisa S Friedman; David R Lynch; Laurence Reutenauer; Jörg B Schulz; Hélène Puccio
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Disease models & mechanisms 2012;5(6):860-9.
2010: Daniele Marmolino; Mario Manto; Fabio Acquaviva; Paola Vergara; Ajay Ravella; Antonella Monticelli; Massimo Pandolfo
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.
PloS one 2010;5(4):e10025.
2009: Giovanni Coppola; Daniele Marmolino; Daning Lu; Qing Wang; Miriam Cnop; Myriam Rai; Fabio Acquaviva; Sergio Cocozza; Massimo Pandolfo; Daniel Geschwind
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia.
Human molecular genetics 2009;18(13):2452-61.
2006: Giovanni Coppola; Sang-Hyun Choi; Manuela M Santos; Carlos Miranda; Dmitri Tentler; Eric Wexler; Massimo Pandolfo; Daniel Geschwind
Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.
Neurobiology of disease 2006;22(2):302-11.
2004: Carlos Miranda; Manuela M Santos; Keiichi Ohshima; Marco Tessaro; Jorge Sequeiros; Massimo Pandolfo
Frataxin overexpressing mice.
FEBS letters 2004;572(1-3):281-8.
2004: Yoshio Ikeda; Joline C Dalton; Melinda L Moseley; Kathy L Gardner; Thomas D Bird; Tetsuo Ashizawa; William K Seltzer; Massimo Pandolfo; Aubrey Milunsky; Nicholas T Potter; Mikio Shoji; John B Vincent; John W Day; Laura P W Ranum
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
American journal of human genetics 2004;75(1):3-16.
2004: Antonella Monticelli; Manuela Giacchetti; Irene De Biase; Luigi Pianese; Mimmo Turano; Massimo Pandolfo; Sergio Cocozza
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
Human genetics 2004;114(5):458-63.
2003: Manuela M Santos; Carlos Miranda; Joanne E Levy; Lynne K Montross; Mireille Cossée; Jorge Sequeiros; Nancy Andrews; Michel Koenig; Massimo Pandolfo
Iron metabolism in mice with partial frataxin deficiency.
Cerebellum (London, England) 2003;2(2):146-53.
2002: Carlos Miranda; Manuela M Santos; Keiichi Ohshima; Julie Smith; Liangtao Li; Michaeline Bunting; Mireille Cossée; Michel Koenig; Jorge Sequeiros; Jerry Kaplan; Massimo Pandolfo
Frataxin knockin mouse.
FEBS letters 2002;512(1-3):291-7.
2002: Massimo Pandolfo
The molecular basis of Friedreich ataxia.
Advances in experimental medicine and biology 2002;516():99-118.
2001: S Jiralerspong; B Ge; T J Hudson; Massimo Pandolfo
Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells.
FEBS letters 2001;509(1):101-5.
2001: Massimo Pandolfo
Molecular basis of Friedreich ataxia.
Movement disorders : official journal of the Movement Disorder Society 2001;16(5):815-21.
2001: Manuela M Santos; Keiichi Ohshima; Massimo Pandolfo
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Human molecular genetics 2001;10(18):1935-44.
2001: N Sakamoto; Keiichi Ohshima; L Montermini; Massimo Pandolfo; Robert D Wells
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.
The Journal of biological chemistry 2001;276(29):27171-7.
2001: N Sakamoto; Jacquelynn E Larson; Ravi R Iyer; L Montermini; Massimo Pandolfo; Robert D Wells
GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities.
The Journal of biological chemistry 2001;276(29):27178-87.
2000: M Emond; G Lepage; Michel Vanasse; Massimo Pandolfo
Increased levels of plasma malondialdehyde in Friedreich ataxia.
Neurology 2000;55(11):1752-3.
2000: M Labuda; Damian Labuda; C Miranda; J Poirier; bing-wen soong; N E Barucha; Massimo Pandolfo
Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.
Neurology 2000;54(12):2322-4.
2000: Brian M Ross; K Eder; Anna Moszczynska; Nikolaos Mamalias; JB Lamarche; Lee Ang; Massimo Pandolfo; G Rouleau; Manfred Kirchgessner; Stephen J Kish
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1.
Movement disorders : official journal of the Movement Disorder Society 2000;15(2):294-300.
1999: L Xiong; M Labuda; D S Li; Thomas J Hudson; R Desbiens; G Patry; S Verret; P Langevin; Suha Mercho; Marie-Hélène Seni; Ingrid E Scheffer; François Dubeau; Samuel F Berkovic; Frederick Andermann; Eva Andermann; Massimo Pandolfo
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.
American journal of human genetics 1999;65(6):1698-710.
1999: Keiichi Ohshima; N Sakamoto; M Labuda; J Poirier; Melinda L Moseley; L Montermini; Laura P W Ranum; Robert D Wells; Massimo Pandolfo
A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.
Neurology 1999;53(8):1854-7.
1999: Massimo Pandolfo
Molecular pathogenesis of Friedreich ataxia.
Archives of neurology 1999;56(10):1201-8.
1999: D S Li; Keiichi Ohshima; S Jiralerspong; Michel W Bojanowski; Massimo Pandolfo
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
FEBS letters 1999;456(1):13-6.
1999: Mireille Cossée; Alexandra Dürr; Martine Schmitt; Niklas Dahl; P Trouillas; P Allinson; M Kostrzewa; A Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschuetter; U Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; F Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; M Labuda; L Montermini; J Poirier; Massimo Pandolfo
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Stephen J Kish; F Mastrogiacomo; Mark Guttman; Yoshiaki Furukawa; J W Taanman; S Dozić; Massimo Pandolfo; JB Lamarche; L DiStefano; Li-Jan Chang
Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change?
Journal of neurochemistry 1999;72(2):700-7.
1999: Massimo Pandolfo
Friedreich's ataxia: clinical aspects and pathogenesis.
Seminars in neurology 1999;19(3):311-21.
1998: Melinda L Moseley; Kellie A Benzow; Lawrence J Schut; Thomas D Bird; Christopher M Gomez; P E Barkhaus; K A Blindauer; M Labuda; Massimo Pandolfo; Michael D Koob; Laura P W Ranum
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.
Neurology 1998;51(6):1666-71.
1998: Stephen J Kish; I Lopes-Cendes; Mark Guttman; Yoshiaki Furukawa; Massimo Pandolfo; G A Rouleau; Brian M Ross; Martha Nance; Lawrence J Schut; Lee Ang; L DiStefano
Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders.
Archives of neurology 1998;55(10):1299-304.
1998: Massimo Pandolfo; L Montermini
Prenatal diagnosis of Friedreich ataxia.
Prenatal diagnosis 1998;18(8):831-3.
1998: Massimo Pandolfo
Molecular genetics and pathogenesis of Friedreich ataxia.
Neuromuscular disorders : NMD 1998;8(6):409-15.
1998: F Zara; M Labuda; P G Garofalo; C Durisotti; Amedeo Bianchi; Barbara Castellotti; P I Patel; Giuliano Avanzini; Massimo Pandolfo
Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy.
Neurology 1998;51(2):493-8.
1998: Keiichi Ohshima; L Montermini; Robert D Wells; Massimo Pandolfo
Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.
The Journal of biological chemistry 1998;273(23):14588-95.
1998: Massimo Pandolfo; L Montermini
Molecular genetics of the hereditary ataxias.
Advances in genetics 1998;38():31-68.
1997: Cinzia Gellera; Davide Pareyson; Barbara Castellotti; F Mazzucchelli; B Zappacosta; Massimo Pandolfo; Stefano Di Donato
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Neurology 1997;49(4):1153-5.
1997: Daniel Geschwind; Susan Perlman; Wayne W Grody; Milhan Telatar; L Montermini; Massimo Pandolfo; Richard A Gatti
Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.
Neurology 1997;49(4):1004-9.
1997: V Campuzano; L Montermini; Yves Lutz; Lidia Cova; Colette Hindelang; S Jiralerspong; Yvon Trottier; Stephen J Kish; Baptiste A Faucheux; P Trouillas; Jerome Authier; Alexandra Dürr; Jean-Louis Mandel; A Vescovi; Massimo Pandolfo; Michel Koenig
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Human molecular genetics 1997;6(11):1771-80.
1997: L Montermini; Stephen J Kish; S Jiralerspong; JB Lamarche; Massimo Pandolfo
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.
Neurology 1997;49(2):606-10.
1997: L Montermini; Eva Andermann; M Labuda; Andrea Richter; Massimo Pandolfo; F Cavalcanti; Luigi Pianese; L Iodice; G Farina; Antonella Monticelli; Mimmo Turano; Alessandro Filla; Giuseppe De Michele; Sergio Cocozza
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Human molecular genetics 1997;6(8):1261-6.
1997: M Babcock; D de Silva; R Oaks; Sandra R Davis-Kaplan; S Jiralerspong; L Montermini; Massimo Pandolfo; Jerry Kaplan
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
Science (New York, N.Y.) 1997;276(5319):1709-12.
1997: L Montermini; Andrea Richter; Kenneth Morgan; C M Justice; D Julien; Barbara Castellotti; Jocelyne Mercier; J Poirier; F Capozzoli; Jean-Pierre Bouchard; B Lemieux; Jean Mathieu; Michel Vanasse; Marie-Hélène Seni; G Graham; Frederick Andermann; Eva Andermann; SB Melançon; Bronya J B Keats; Stefano Di Donato; Massimo Pandolfo
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Annals of neurology 1997;41(5):675-82.
1997: Mireille Cossée; V Campuzano; Hana Koutnikova; K Fischbeck; Jean-Louis Mandel; Michel Koenig; Sanjay I Bidichandani; Pragna I Patel; M D Moltè; J Cañizares; Rosa de Frutos; Luigi Pianese; F Cavalcanti; Antonella Monticelli; Sergio Cocozza; L Montermini; Massimo Pandolfo
Frataxin fracas.
Nature genetics 1997;15(4):337-8.
1997: S Jiralerspong; Y Liu; L Montermini; S Stifani; Massimo Pandolfo
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
Neurobiology of disease 1997;4(2):103-13.
1996: V Campuzano; L Montermini; M D Moltò; Luigi Pianese; Mireille Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; Antonella Monticelli; F Zara; J Cañizares; Hana Koutnikova; Sanjay I Bidichandani; Cinzia Gellera; Alexis Brice; P Trouillas; Giuseppe De Michele; Alessandro Filla; Rosa de Frutos; Francesc Palau; Pragna I Patel; Stefano Di Donato; Jean-Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: E Monrós; J Cañizares; Maria Dolores Moltó; F Rodius; L Montermini; Mireille Cossée; Francisco Martínez; Félix Prieto; Rosa de Frutos; Michel Koenig; Massimo Pandolfo; Jaume Bertranpetit; Francesc Palau
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.
European journal of human genetics : EJHG 1996;4(4):191-8.
1995: Sarah H Elsea; R C Juyal; S Jiralerspong; B M Finucane; Massimo Pandolfo; F Greenberg; Antonio Baldini; P Stover; Pragna I Patel
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
American journal of human genetics 1995;57(6):1342-50.
1995: F Zara; A Bianchi; G Avanzini; Stefano Di Donato; Barbara Castellotti; Pragna I Patel; Massimo Pandolfo
Mapping of genes predisposing to idiopathic generalized epilepsy.
Human molecular genetics 1995;4(7):1201-7.
1995: Luis Figuera; Massimo Pandolfo; P W Dunne; J M Cantú; Pragna I Patel
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.
Nature genetics 1995;10(2):202-7.
1995: Francesc Palau; G De Michele; J J Vilchez; Massimo Pandolfo; E Monrós; Sergio Cocozza; P Smeyers; J Lopez-Arlandis; G Campanella; Stefano Di Donato
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
Annals of neurology 1995;37(3):359-62.
1995: D Lorenzetti; Davide Pareyson; Angelo Sghirlanzoni; B B Roa; N E Abbas; Massimo Pandolfo; Stefano Di Donato; J R Lupski
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
American journal of human genetics 1995;56(1):91-8.
1994: Massimo Pandolfo; A Pizzuti; E Redolfi; M Munaro; Stefano Di Donato; F Cavalcanti; Alessandro Filla; Antonella Monticelli; Luigi Pianese; Sergio Cocozza
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.
Biochemical medicine and metabolic biology 1994;52(2):115-9.
1994: Giorgio Sirugo; F Duclos; R Fujita; J B Keats; Massimo Pandolfo; Jean-Louis Mandel; Michel Koenig
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(5-6):219-24.
1994: E Monrós; P Smeyers; F Rodius; J Cañizares; Maria Dolores Moltó; J J Vilchez; Massimo Pandolfo; J Lopez-Arlandis; Rosa de Frutos; Félix Prieto
Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.
European journal of human genetics : EJHG 1994;2(4):291-9.
1993: Massimo Pandolfo; M Munaro; Sergio Cocozza; E Redolfi; Luigi Pianese; F Cavalcanti; Antonella Monticelli; Stefano Di Donato
A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.
Human molecular genetics 1993;2(6):822.
1993: Susan Chamberlain; Michel Koenig; A Richter; Francesc Palau; Massimo Pandolfo
Molecular analysis of the Friedreich's ataxia locus.
Advances in neurology 1993;61():193-204.
1992: F Cavalcanti; Sergio Cocozza; Alessandro Filla; Giuseppe De Michele; Luigi Pianese; Antonio Porcellini; Antonella Monticelli; Massimo Pandolfo; S Banfi; Stelio Varrone
Friedreich's disease. A linkage study in southern and central Italy.
Acta neurologica 1992;14(4-6):519-23.
1992: Massimo Pandolfo
A rapid method to isolate (GT)n repeats from yeast artificial chromosomes.
Nucleic acids research 1992;20(5):1154.
1990: Massimo Pandolfo; Giorgio Sirugo; A Antonelli; L Weitnauer; L Ferretti; Maurizio Leone; I Dones; A Cerino; R Fujita; André Hanauer
Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.
American journal of human genetics 1990;47(2):228-35.
1989: L Weitnauer; A Antonelli; Massimo Pandolfo
A TaqI RFLP in the locus D9S29 on human chromosome 9.
Nucleic acids research 1989;17(24):10514.