V
Victoria Campuzano
Researcher at University of Barcelona
Publications - 41
Citations - 6442
Victoria Campuzano is an academic researcher from University of Barcelona. The author has contributed to research in topics: Frataxin & Medicine. The author has an hindex of 19, co-authored 35 publications receiving 6048 citations. Previous affiliations of Victoria Campuzano include Pompeu Fabra University & University of Salamanca.
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Journal ArticleDOI
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano,Laura Montermini,María Dolores Moltó,Luigi Pianese,Mireille Cossée,F Cavalcanti,Eugenia Monros,François Rodius,Franck Duclos,Antonella Monticelli,Federico Zara,Joaquín Cañizares,Hana Koutnikova,Sanjay I. Bidichandani,Cinzia Gellera,Alexis Brice,Paul Trouillas,Giuseppe De Michele,Alessandro Filla,Rosa de Frutos,Francisco Palau,Pragna Patel,Stefano Di Donato,Jean-Louis Mandel,Sergio Cocozza,Michel Koenig,Massimo Pandolfo +26 more
TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Alexandra Durr,Mireille Cossée,Yves Agid,Victoria Campuzano,Claude Mignard,C. Penet,Jean-Louis Mandel,Alexis Brice,Michel Koenig +8 more
TL;DR: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.
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Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
Victoria Campuzano,Laura Montermini,Yves Lutz,Lidia Cova,Colette Hindelang,Sarn Jiralerspong,Yvon Trottier,Stephen J. Kish,Baptiste Faucheux,Paul Trouillas,François J. Authier,Alexandra Durr,Jean-Louis Mandel,Angelo L. Vescovi,Massimo Pandolfo,Massimo Pandolfo,Michel Koenig +16 more
TL;DR: The data suggest that a reduction in frataxin results in oxidative damage, given the shared clinical features between Friedreich ataxia, vitamin E deficiency and some mitochondriopathies.
Journal ArticleDOI
Tumor induction by an endogenous K-ras oncogene is highly dependent on cellular context
Carmen Guerra,Nieves Mijimolle,Alma Dhawahir,Pierre Dubus,Marta Barradas,Manuel Serrano,Victoria Campuzano,Mariano Barbacid +7 more
TL;DR: In mice, expression of K-ras(V12) throughout the body fails to induce unscheduled proliferation or other growth abnormalities for up to eight months, indicating that neoplastic growth induced by an endogenous K- Ras oncogene depends upon cellular context.
Journal ArticleDOI
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
Hana Koutnikova,Victoria Campuzano,Françoise Foury,Pascal Dollé,Ornella Cazzalini,Michel Koenig +5 more
TL;DR: It is found that mouse and yeast frataxin homologues contain a potential mitochondrial targeting sequence in their N-terminal domains and that disruption of the yeast gene results in mitochondrial dysfunction.