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...

Descripción completa

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

Internet

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

Ejemplares similares