NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteosome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrop...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Eur J Med Genet
Main Authors: Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Omay, E. Zeynep Erson, Harmanci, Akdes Serin, Mishra, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat
Formato: Artigo
Idioma:Inglês
Publicado: 2014
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4804755/
https://ncbi.nlm.nih.gov/pubmed/25220016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2014.08.008
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares