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Giant axonal neuropathy--associated gigaxonin mutations impair intermediate filament protein degradation
- Source :
- Journal of Clinical Investigation. May 1, 2013, Vol. 123 Issue 5, p1964, 12 p.
- Publication Year :
- 2013
-
Abstract
- Giant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. In GAN, [...]
- Subjects :
- Identification and classification
Genetic aspects
Properties
Axons -- Genetic aspects
Cellular proteins -- Properties
Peripheral nervous system diseases -- Genetic aspects
Gene mutation -- Identification and classification
Gene mutations -- Identification and classification
Peripheral nerve diseases -- Genetic aspects
Subjects
Details
- Language :
- English
- ISSN :
- 00219738
- Volume :
- 123
- Issue :
- 5
- Database :
- Gale General OneFile
- Journal :
- Journal of Clinical Investigation
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.341937386
- Full Text :
- https://doi.org/10.1172/JCI66387