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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2013
Schlagworte:
Research Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge