Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Yu SH, Wang T, Wiggins K, Louie RJ, Merino EF, Skinner C, Cassera MB, Meagher K, Goldberg P, Rismanchi N, Chen D, Lyons MJ, Flanagan-Steet H, Steet R. Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. Genet Med. 2021 07; 23(7):1305-1314.