Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

Autor: Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P. Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer, Myriam Rai, Marius Teletin, Nadia Messaddeq, Serge N. Schiffmann, Stéphane Viville, Christopher E. Pearson, Massimo Pandolfo, Hélène Puccio

Publikováno v: Disease Models & Mechanisms, Vol 6, Iss 3, Pp 608-621 (2013)

SUMMARY Friedreich’s ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial

Externí odkaz: https://doaj.org/article/8628c6091f1b41bfa49ec4ee6cf62b74

Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

Autor: Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio

Publikováno v: PLoS ONE, Vol 6, Iss 1, p e16199 (2011)

BACKGROUND: Frataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in multiple iron-dependent mitochondrial pathways. In particular, frataxin plays an impor

Externí odkaz: https://doaj.org/article/c6a50afee2344fd683d3325c207d468d

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Autor: Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio

Publikováno v: PLoS ONE, Vol 4, Iss 7, p e6379 (2009)

BACKGROUND:Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a

Externí odkaz: https://doaj.org/article/e20e9a7c96684b6e855d8386ef61204e

Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism

Autor: Slimane Ait-Si-Ali, Marie Wattenhofer-Donzé, Marie-France Champy, Renaud Pourpre, Alice Lebreton, Goran Lakisic, Pascale Cossart, Morwenna Le Guillou, Hélène Bierne, Tania Sorg, Guillaume Soubigou, Emanuele Libertini, Anne C. Ferguson-Smith, Jean Feunteun, Jean-Yves Coppée, Elizabeth J. Radford, Olivia Wendling

Publikováno v: PLoS Genetics, Vol 12, Iss 3, p e1005898 (2016)
PLoS Genetics
PLoS Genetics, 2016, 12 (3), pp.e1005898. ⟨10.1371/journal.pgen.1005898⟩
PLoS Genetics, Public Library of Science, 2016, 12 (3), pp.e1005898. ⟨10.1371/journal.pgen.1005898⟩
Plos Genetics 3 (12), 1-26. (2016)
PLOS Genetics

BAHD1 is a vertebrate protein that promotes heterochromatin formation and gene repression in association with several epigenetic regulators. However, its physiological roles remain unknown. Here, we demonstrate that ablation of the Bahd1 gene results

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a62788fa55fa964310f2bf954bcf0db

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Autor: Marie-Christine Birling, Chantal Sellier, Frank Ruffenach, Cécile Martinat, Marie Wattenhofer-Donzé, Stéphane Viville, Ronald A.M. Buijsen, Mustapha Oulad-Abdelghani, Hamid Meziane, Peter K. Todd, Alexandre Vincent, Guillaume Pavlovic, Pascal Eberling, Hugues Jacobs, Verónica Martínez-Cerdeño, Flora Tassone, Marie-France Champy, Laura Jung, Fang He, Nicolas Charlet-Berguerand, Philippe Tropel, Mathieu Anheim, Angeline Gaucherot, Tania Sorg, Renate K. Hukema, Mathilde Joint, Rob Willemsen, Sam Natla

Publikováno v: Neuron
Neuron, Elsevier, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Neuron, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Neuron, 93(2), 331-347. Cell Press

Summary Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequeste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac810585be5f301dae038601eb249979
https://hal.archives-ouvertes.fr/hal-03339534