ArticleJournal of cell science2022
Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.
Article in Journal of cell science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 37 citations in OpenAlex.
- Lipid flip-flop in biological membranes: through the lens of TMEM16F.Physiological reviews · 2026Review
- Article
- Action dystonia in Chorea-Acanthocytosis.Acta neurologica Belgica · 2026Article
- Brain Sphingolipid and Phospholipid Levels Are Altered in XK Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Four subtypes of disease-causing missense mutations underlie pathogenic protein interactions in neurodegenerative VPS13A disease.The Journal of clinical investigation · 2026Article
- VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- TMEM170 proteins are lipid scramblases associated with bridge-type lipid transporters BLTP1/Csf1.Nature structural & molecular biology · 2026Article
- The Diverse Neuromuscular Spectrum of VPS13A Disease.Annals of clinical and translational neurology · 2026Article
- A NovelInternational journal of molecular sciences · 2025Article
- Neurodegenerative and Neurodevelopmental Roles for Bulk Lipid Transporters VPS13A and BLTP2.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.The Journal of cell biology · 2024Article
- YdbH and YnbE form an intermembrane bridge to maintain lipid homeostasis in the outer membrane ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Biogenesis of Rab14-positive endosome buds at Golgi-endosome contacts by the RhoBTB3-SHIP164-Vps26B complex.Cell discovery · 2024Article
- Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome).Journal of movement disorders · 2024Article
- Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).Molecular genetics and genomics : MGG · 2024Article
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 2024Article
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.Nature reviews. Molecular cell biology · 2023Review
- Parallel phospholipid transfer by Vps13 and Atg2 determines autophagosome biogenesis dynamics.The Journal of cell biology · 2023Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
VPS13 family proteins form conduits between the membranes of different organelles through which lipids are transferred. In humans, there are four VPS13 paralogs, and mutations in the genes encoding each of them are associated with different inherited disorders. VPS13 proteins contain multiple conserved domains. The Vps13 adaptor-binding (VAB) domain binds to adaptor proteins that recruit VPS13 to specific membrane contact sites. This work demonstrates the importance of a different domain in VPS13A function. The pleckstrin homology (PH) domain at the C-terminal region of VPS13A is required to form a complex with the XK scramblase and for the co-localization of VPS13A with XK within the cell. Alphafold modeling was used to predict an interaction surface between VPS13A and XK. Mutations in this region disrupt both complex formation and co-localization of the two proteins. Mutant VPS13A alleles found in patients with VPS13A disease truncate the PH domain. The phenotypic similarities between VPS13A disease and McLeod syndrome caused by mutations in VPS13A and XK, respectively, argue that loss of the VPS13A-XK complex is the basis of both diseases.
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Registered trials
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.