ArticleAnnals of neurology2018
Recessive mutations in VPS13D cause childhood onset movement disorders.
Article in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 128 citations in OpenAlex.
- Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Adult-Onset SCAR4 with a 30-Year Slowly Progressive Course: First Combined Assessment with FDG-PET and Brain Perfusion SPECT.Cerebellum (London, England) · 2026Review
- Hoi1 targets BLTP2 to ER-PM contact sites to regulate lipid homeostasis.The Journal of cell biology · 2026Article
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- The conserved outer mitochondrial membrane protein Mtch regulates mitophagy during Drosophila intestinal development.PLoS biology · 2026Article
- VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.Cerebellum (London, England) · 2025Article
- Microglia promote inflammatory cell death upon neuronal mitochondrial impairment during neurodegeneration.Nature structural & molecular biology · 2025Article
- VPS13D mutations affect mitochondrial homeostasis and locomotion in Caenorhabditis elegans.G3 (Bethesda, Md.) · 2025Article
- VPS13 and bridge-like lipid transporters, mechanisms, and mysteries.Frontiers in neuroscience · 2025Review
- Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1.The Journal of cell biology · 2024Article
- VPS13D affects epileptic seizures by regulating mitochondrial fission and autophagy in epileptic rats.Genes & diseases · 2024Article
- A Novel Mutation of VPS13D-related Disorders with Parkinsonism.Internal medicine (Tokyo, Japan) · 2024Article
- New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due toInternational journal of molecular sciences · 2024Article
- A role for Vps13-mediated lipid transfer at the ER-endosome contact site in ESCRT-mediated sorting.The Journal of cell biology · 2024Article
- Shared structural features of Miro binding control mitochondrial homeostasis.The EMBO journal · 2024Article
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1.bioRxiv : the preprint server for biology · 2023Article
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Article
27 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia, or tremor), and progressive spastic ataxia or paraparesis. Characteristic brain magnetic resonance imaging shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and choreoacanthocytosis. Muscle biopsy in 1 case showed mitochondrial aggregates and lipidosis, suggesting mitochondrial dysfunction. These findings underline the importance of the VPS13 complex in neurological diseases and a possible role in mitochondrial function. Ann Neurol 2018;83:1089-1095.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.