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Lysosomal Cholesterol Accumulation Contributes to the Movement Phenotypes Associated with NUS1 Haploinsufficiency

PURPOSE: Variants in NUS1 are associated with a congenital disorder of glycosylation, developmental and epileptic encephalopathies, and are possible contributors to Parkinson’s disease pathogenesis. How the diverse functions of the NUS1-encoded Nogo B receptor (NgBR) relate to these different phenot...

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Detalles Bibliográficos
Autores principales:	Yu, Seok-Ho, Wang, Tong, Wiggins, Kali, Louie, Raymond J., Merino, Emilio F., Skinner, Cindy, Cassera, Maria B., Meagher, Kirsten, Goldberg, Paul, Rismanchi, Neggy, Chen, Dillon, Lyons, Michael J., Flanagan-Steet, Heather, Steet, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263489/ https://www.ncbi.nlm.nih.gov/pubmed/33731878 http://dx.doi.org/10.1038/s41436-021-01137-6

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