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Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency

Seok‐Ho Yu, Tong Wang, Kali Wiggins, Raymond J. Louie, Emilio F. Merino, Cindy Skinner, María B. Cassera, Kirsten Meagher, P. Goldberg, Neggy Rismanchi, Dillon Z. Chen, Michael J. Lyons, Heather Flanagan‐Steet, Richard Steet

2021Genetics in Medicine40 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyPhenotypeCholesterolMedicineBiologyGeneticsInternal medicineBioinformaticsCell biologyGeneAutophagy in Disease and TherapyLysosomal Storage Disorders ResearchTrypanosoma species research and implications
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency | Litcius