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Article

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

Disease models & mechanisms - 1 May 2013

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

Abstract excerpt

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 protein involved in iron-sulphur cluster biosynthesis. Th...

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Source

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Identifiers

PMID: 23136396
DOI: 10.1242/dmm.010900
PMCID: PMC3634645

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23136396-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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