Article
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021
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
Abstract excerpt
PURPOSE: Variants in NUS1 are associated with a congenital disorder of glycosylation, developmental and epileptic encephalopathies, and are possible contributors to Parkinson disease pathogenesis. How the diverse functions of the NUS1-encoded Nogo B receptor (NgBR) relate to these different phenotypes is largely unknown. We present three patients with de novo heterozygous variants in NUS1 that cause a complex...
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