Article
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Acta neuropathologica communications - 24 Apr 2014
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
Abstract excerpt
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 Intermediate Filament network. Growing evidences suggest that GAN is a continuum with the peripheral neuropathy...
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