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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Detalles Bibliográficos
Autores principales: Han, Seung Yeop, Pandey, Ashutosh, Moore, Tereza, Galeone, Antonio, Duraine, Lita, Cowan, Tina M., Jafar-Nejad, Hamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769621/
https://www.ncbi.nlm.nih.gov/pubmed/33315951
http://dx.doi.org/10.1371/journal.pgen.1009258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769621/
https://www.ncbi.nlm.nih.gov/pubmed/33315951
http://dx.doi.org/10.1371/journal.pgen.1009258

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