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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Med Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2014
विषय:
Article
ऑनलाइन पहुंच: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
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