The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

BACKGROUND: The BTB-KELCH protein Gigaxonin plays key roles in sustaining neuron survival and cytoskeleton architecture. Indeed, recessive mutations in the Gigaxonin-encoding gene cause Giant Axonal Neuropathy (GAN), a severe neurodegenerative disorder characterized by a wide disorganization of the...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy L, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda A, Rautenstrauss, Bernd, Bomont, Pascale
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4234992/
https://ncbi.nlm.nih.gov/pubmed/24758703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-47
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