Associated Papers
VPS41 deletion triggers progressive loss of insulin stores and downregulation of β-cell identity.
Yau B et al.
American Journal of Physiology. Endocrinology and Metabolism, 2025
From bugs to bedside: functional annotation of human genetic variation for neurological disorders using invertebrate models.
Mew M et al.
Human Molecular Genetics, 2022
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Monfrini E et al.
Brain : a Journal of Neurology, 2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN et al.
Embo Molecular Medicine, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE et al.
Brain : a Journal of Neurology, 2021
Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion.
Burns CH et al.
Diabetes, 2021
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