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- Title
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.
- Authors
Cnop, Miriam; Igoillo-Esteve, Mariana; Rai, Myriam; Begu, Audrey; Serroukh, Yasmina; Depondt, Chantal; Musuaya, Anyishai E; Marhfour, Ihsane; Ladrière, Laurence; Moles Lopez, Xavier; Lefkaditis, Dionysios; Moore, Fabrice; Brion, Jean-Pierre; Cooper, J Mark; Schapira, Anthony H V; Clark, Anne; Koeppen, Arnulf H; Marchetti, Piero; Pandolfo, Massimo; Eizirik, Décio L; Féry, Françoise
- Abstract
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused in almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene. Frataxin is a mitochondrial protein involved in iron homeostasis. FRDA patients have a high prevalence of diabetes, the pathogenesis of which is not known. We aimed to evaluate the relative contribution of insulin resistance and β-cell failure and the pathogenic mechanisms involved in FRDA diabetes.
- Publication
Annals of neurology, 2012, Vol 72, Issue 6, p971
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.23698