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...

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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2013
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Research Article
Online Erişim: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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