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L Montermini

Research Profile

Disorders

Friedreich's Ataxia

Chemicals & Drugs

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Molecular Sequence Data

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Publications

TOP 3
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.
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.
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.

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All Publications

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.
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: 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.
1998: Massimo Pandolfo; L Montermini
Prenatal diagnosis of Friedreich ataxia.
Prenatal diagnosis 1998;18(8):831-3.
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: 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: L Montermini; F Rodius; Luigi Pianese; M D Moltò; Mireille Cossée; V Campuzano; F Cavalcanti; Antonella Monticelli; Francesc Palau; G Gyapay
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.
American journal of human genetics 1995;57(5):1061-7.
1995: E Verderio; Patrizia Cavadini; L Montermini; H Wang; Eleonora Lamantea; Gaetano Finocchiaro; S DiDonato; Cinzia Gellera; Franco Taroni
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Human molecular genetics 1995;4(1):19-29.
1994: Cinzia Gellera; E Verderio; Giovanna Floridia; Gaetano Finocchiaro; L Montermini; Patrizia Cavadini; Orsetta Zuffardi; Franco Taroni
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
Genomics 1994;24(1):195-7.
1994: L Montermini; H Wang; E Verderio; Franco Taroni; S DiDonato; Gaetano Finocchiaro
Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene.
Biochimica et biophysica acta 1994;1219(1):237-40.
1992: Irma Colombo; S DiDonato; M Volta; Cinzia Gellera; Barbara Garavaglia; L Montermini; S Yamaguchi; S I Goodman; F E Frerman; Gaetano Finocchiaro
Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II.
Progress in clinical and biological research 1992;375():561-6.