HOPS ‐Associated Neurological Disorders: Lysosomal Dysfunction as an Emerging Concept Underlying Dystonia
Author:
Affiliation:
1. Department of Neurology University Hospital Würzburg Würzburg Germany
2. Department of Clinical and Movement Neurosciences Institute of Neurology, UCL London United Kingdom
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13405
Reference8 articles.
1. Emerging and converging molecular mechanisms in dystonia
2. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
3. Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
4. A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia
5. VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling
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