A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including neuropathy, movement disorder, and constipation. N...

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Autores principales: Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2020
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Acceso en línea:https://doaj.org/article/38ad2190625241eaa6c24799b3b7819a
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