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August 28, 2020Annals of NeurologyOpen Access

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

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Authors

DSDora SteelGreat Ormond Street HospitalMZMichael ZechKlinikum rechts der IsarCZChen ZhaoNorth Sichuan Medical University

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Cite This Study

Steel et al. (2020) studied this question.

synapsesocial.com/papers/69d8d188f39dfae3cad18089https://doi.org/10.1002/ana.25879
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1DrosophilaVps16A is required for trafficking to lysosomes and biogenesis of pigment granules2005 · 248 citations
  2. 2HOPS catalyzes the interdependent assembly of each vacuolar SNARE into a SNARE complex2017 · 53 citations
  3. 3VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling2019 · 7 citations
  4. 4Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes2015 · 152 citations