Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

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, aggregates of intermediate filaments (IFs) represent the main pathological feature detected in neurons and other...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Mahammad, Saleemulla, Murthy, S.N. Prasanna, Didonna, Alessandro, Grin, Boris, Israeli, Eitan, Perrot, Rodolphe, Bomont, Pascale, Julien, Jean-Pierre, Kuczmarski, Edward, Opal, Puneet, Goldman, Robert D.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2013
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3635735/
https://ncbi.nlm.nih.gov/pubmed/23585478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI66387
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