Affinage

VPS13A

Intermembrane lipid transfer protein VPS13A · UniProt Q96RL7

Length
3174 aa
Mass
360.3 kDa
Annotated
2026-06-11
78 papers in source corpus 22 papers cited in narrative 22 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

VPS13A (chorein) is a bridge-like bulk lipid transfer protein that moves glycerolipids between organelle membranes at ER-organelle contact sites, with its N-terminal domain forming a hydrophobic tubular channel that solubilizes and shuttles lipids in vitro (PMID:30093493). It is recruited to distinct contact sites through modular adaptor interactions: an FFAT-mediated interaction with the ER protein VAP-A and a C-terminal domain that engages mitochondria (PMID:30741634), a VAB domain that binds a PxP motif in SNX5 at endosomal subdomains (PMID:36977596), and a C-terminal PH domain that binds a cytosolic loop of the plasma-membrane lipid scramblase XK in a manner competitive with its other membrane-tethering activities (PMID:35994651). The VPS13A-XK complex pairs lipid transfer with scramblase activity to deliver and equilibrate lipids across membrane leaflets (PMID:41542425), and this complex is essential for P2X7-stimulated phosphatidylserine exposure and necrotic cell death in T cells (PMID:35140185); the C-terminal β-strand of VPS13A docks into a β-hairpin of XK, an interface required for scramblase function and disrupted by patient-derived variants (PMID:41874565). Through these contacts VPS13A maintains ER-mitochondria tethering, mitochondrial morphology and lipid import, and lipid droplet homeostasis, and its loss fragments mitochondria and perturbs lipid droplet abundance (PMID:30741634, PMID:36147729, PMID:41552990). VPS13A also supports autophagy and autophagic flux—acting in part through a direct interaction with the lipid scramblase ATG9A (PMID:25996471, PMID:38294121)—and contributes to endolysosomal trafficking via RAB7A (PMID:30709847) and to plasma membrane repair together with ATG9A (PMID:42044337). VPS13A and the paralog VPS13C are partially redundant, since combined loss is embryonic lethal with defective erythropoiesis and innate immune activation (PMID:40956846). In neurons, VPS13A loss elevates DAG and dysregulates PKCβII signaling, impairing corticostriatal long-term depression and neuronal morphology (PMID:42237281); truncating mutations that remove the PH domain underlie chorea-acanthocytosis (PMID:35950506).

Mechanistic history

Synthesis pass · year-by-year structured walk · 18 steps
  1. 2018 High

    Established the core biochemical identity of VPS13A by showing its N-terminal domain forms a hydrophobic channel that directly transports glycerolipids, settling whether it is a lipid transporter rather than merely a tether.

    Evidence In vitro lipid transport reconstitution, structural analysis of the N-terminal domain, and co-localization imaging

    PMID:30093493

    Open questions at the time
    • Did not resolve which contact sites are used in vivo under physiological demand
    • Lipid selectivity and directionality of transfer not defined
  2. 2019 High

    Defined how VPS13A is anchored to the ER and bridged to mitochondria and lipid droplets, identifying the adaptor logic underlying its contact-site localization.

    Evidence Reciprocal Co-IP mapping the FFAT-VAP-A interaction, C-terminal domain truncation for mitochondrial binding, live-cell imaging, and siRNA loss-of-function phenotyping

    PMID:30741634

    Open questions at the time
    • Molecular identity of the mitochondrial C-terminal receptor not established here
    • Whether ER-mito tethering and lipid transfer are mechanistically separable left open
  3. 2015 High

    Connected VPS13A to autophagy across species, showing it is required for autophagosome formation and flux and that the C-terminal ATG2-homology region is the functional module.

    Evidence Dictyostelium TipC knockout with autophagy markers and flux assays, domain complementation, and confirmatory siRNA in HeLa cells

    PMID:25996471

    Open questions at the time
    • Direct molecular mechanism linking lipid transfer to autophagosome biogenesis not defined
    • Relevant autophagy partner not yet identified at this stage
  4. 2019 Medium

    Placed VPS13A in endolysosomal trafficking by identifying RAB7A as a partner, expanding its role beyond ER-mitochondria contacts.

    Evidence Co-IP of VPS13A and RAB7A in HeLa and Dictyostelium plus endolysosomal marker analysis

    PMID:30709847

    Open questions at the time
    • Interaction domain on VPS13A not mapped
    • Single lab; direct vs indirect RAB7A binding unresolved
  5. 2020 Medium

    Identified XK as a VPS13A partner that recruits it to specific contact sites, and linked the recruitment to disease mutations.

    Evidence Co-IP and overexpression relocalization assay in human cells with ChAc disease-mutant VPS13A

    PMID:32845802

    Open questions at the time
    • Binding interface not yet mapped at this stage
    • Functional consequence of relocalization not measured
  6. 2022 High

    Resolved the molecular basis of XK recruitment, showing the VPS13A PH domain binds an XK cytosolic loop to form ER-PM contacts, and that this binding competes with other membrane-tethering interactions.

    Evidence Domain-level binding assays, AlphaFold modeling, competitive binding assays, and caudate neuron expression analysis

    PMID:35994651

    Open questions at the time
    • Structural model not experimentally validated at this stage
    • Regulatory switch controlling competing localizations not fully defined
  7. 2022 High

    Demonstrated a physiological function for the VPS13A-XK complex, establishing it as essential for P2X7-driven phosphatidylserine scrambling and necrotic death in T cells.

    Evidence Genome-wide CRISPR screen, blue-native PAGE complex detection, phospholipid scrambling assays, and null-mutant cell lysis assays

    PMID:35140185

    Open questions at the time
    • How lipid transfer mechanistically enables scrambling not resolved here
    • Generality beyond T cells not addressed
  8. 2022 Medium

    Mapped the PH domain as the XK-binding module and linked PH-domain-truncating patient mutations to loss of complex formation.

    Evidence Domain mutagenesis, Co-IP, co-localization imaging, and AlphaFold modeling

    PMID:35950506

    Open questions at the time
    • Structural prediction not validated by experimental structure at this stage
    • Single lab
  9. 2022 Medium

    Showed VPS13A regulates lipid droplet abundance at ER-LD contacts under lipid loading, reinforcing its lipid-homeostatic role.

    Evidence CRISPR knockout in U-2 OS cells with lipid droplet quantification under oleate stimulation

    PMID:36147729

    Open questions at the time
    • Directionality of lipid flux to/from droplets not determined
    • Single method, single lab
  10. 2023 Medium

    Identified SNX5 as the endosomal adaptor binding the VPS13A VAB domain, mapping a third recruitment mechanism and linking a conserved VAB residue to pathogenicity.

    Evidence Co-IP, domain truncation/mutation analysis, co-localization imaging, and yeast comparative genetics

    PMID:36977596

    Open questions at the time
    • Functional consequence of SNX5-mediated endosomal localization not defined
    • Single lab
  11. 2023 Medium

    Provided a molecular link to autophagy machinery by showing VPS13A directly binds the scramblase ATG9A in a complex distinct from ATG9A-ATG2A.

    Evidence IP-mass spectrometry interactome with biochemical complex validation

    PMID:38294121

    Open questions at the time
    • Functional role of the VPS13A-ATG9A complex in autophagy not established here
    • Binding interface not mapped
  12. 2023 Medium

    Showed that VPS13A-XK ER-PM contact formation requires a permissive cellular state, not merely XK presence, revealing state-dependent regulation of contact assembly.

    Evidence Overexpression co-localization imaging in K562 cells ± hemin differentiation with XK CRISPR KO and quantitative contact analysis

    PMID:38144430

    Open questions at the time
    • The permissive factor or signal is not identified
    • Single lab, overexpression-based
  13. 2023 Medium

    Linked VPS13A loss to neuronal lipid signaling dysregulation, showing elevated DAG and PKCβII-dependent defects in corticostriatal plasticity and morphology.

    Evidence In vivo AAV knockdown, lipidomics, PKC isoform analysis, electrophysiology, behavior, and PKCβII pharmacological rescue

    PMID:42237281

    Open questions at the time
    • Mechanistic link from impaired lipid transfer to DAG accumulation not fully defined
    • Single lab
  14. 2025 Medium

    Connected VPS13A-dependent autophagy to tissue pathology, showing autophagy impairment in skeletal muscle drives metabolic remodeling and accelerated aging that is reversible by rapamycin.

    Evidence Vps13a-/- mouse with autophagy flux assays, rapamycin rescue, patient muscle biopsies, and proteomics

    PMID:40275365

    Open questions at the time
    • Whether muscle and neuronal phenotypes share one mechanism unresolved
    • Single lab
  15. 2025 High

    Established functional redundancy between VPS13A and VPS13C through genetic epistasis, showing combined loss causes embryonic lethality with defective erythropoiesis and innate immune activation.

    Evidence Vps13a/Vps13c double knockout mouse with embryonic phenotyping, erythroid assays, and innate immunity gene profiling

    PMID:40956846

    Open questions at the time
    • The shared lipid species or membrane whose loss triggers innate immune activation not identified
    • Relative contribution of each paralog per tissue unresolved
  16. 2026 High

    Delivered the structural mechanism of the VPS13A-XKR1 complex, showing how PH-domain binding orients the lipid-transfer channel to deliver lipids to the cytosolic leaflet for scramblase-mediated equilibration.

    Evidence Near-atomic cryo-EM structure with molecular dynamics simulations (preprint)

    PMID:41542425

    Open questions at the time
    • Structure with the physiological XK partner versus XKR1 paralog not directly compared
    • Preprint, not yet peer reviewed
  17. 2026 High

    Defined the VPS13A-XK binding interface at residue resolution and systematically classified patient variants by mechanism, separating expression defects from scramblase-activity defects and identifying a gain-of-function variant.

    Evidence Site-directed mutagenesis, phospholipid scrambling assays, expression analysis, and cell morphology in a mouse cell system

    PMID:41874565

    Open questions at the time
    • In vivo consequences of variant classes not tested
    • Single lab
  18. 2026 Medium

    Confirmed in patient cells that VPS13A loss impairs lipid transfer into mitochondria and perturbs contact sites and mitochondrial calcium handling, validating the lipid-transfer model in a disease-relevant context.

    Evidence Labeled fatty acid transfer assay, mitochondrial calcium indicators, and super-resolution imaging in patient fibroblasts

    PMID:41552990

    Open questions at the time
    • Causal link between lipid transfer defect and altered calcium uptake not mechanistically dissected
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How VPS13A dynamically partitions among its competing adaptor-defined contact sites (ER-mitochondria, ER-PM, endosomes, lipid droplets) in response to cellular state, and which specific lipid flux underlies each disease-relevant phenotype, remains unresolved.
  • The signal controlling competitive PH-domain partitioning is unknown
  • Tissue-specific lipid species transferred not identified
  • Mechanism linking lipid transfer to autophagy, neuronal DAG/PKC signaling, and calcium handling not unified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008289 lipid binding 3 GO:0060090 molecular adaptor activity 3 GO:0140104 molecular carrier activity 2
Localization
GO:0005783 endoplasmic reticulum 3 GO:0005811 lipid droplet 3 GO:0005886 plasma membrane 3 GO:0005739 mitochondrion 2 GO:0005768 endosome 2
Pathway
R-HSA-1430728 Metabolism 3 R-HSA-9612973 Autophagy 3 R-HSA-5357801 Programmed Cell Death 1 R-HSA-5653656 Vesicle-mediated transport 1
Partners
ATG9ARAB7ASNX5TBC1D1VAPAXKXKR1
Complex memberships
VPS13A-ATG9A complexVPS13A-XK plasma membrane complex

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2018 The N-terminal portion of VPS13A forms a tubular structure with a hydrophobic cavity that can solubilize and transport glycerolipids between membranes in vitro. VPS13A binds to the ER and tethers it to mitochondria and lipid droplets, functioning as a lipid transporter at ER-organelle membrane contact sites. In vitro lipid transport reconstitution assay, structural analysis of N-terminal domain, subcellular fractionation and co-localization imaging The Journal of cell biology High 30093493
2019 VPS13A is a peripheral membrane protein localized at ER-mitochondria contact sites, lipid droplets, and the ER. It interacts with the ER-resident protein VAP-A via its FFAT domain, and its C-terminal domain mediates interaction with mitochondria. VPS13A depletion decreases ER-mitochondria contact sites, causes mitochondrial fragmentation, decreases mitophagy, and increases lipid droplet numbers. Co-immunoprecipitation (VAP-A interaction via FFAT domain), domain truncation mapping (C-terminal mitochondrial interaction), live-cell imaging, siRNA knockdown with quantitative phenotypic readouts eLife High 30741634
2015 VPS13A (via its Dictyostelium ortholog TipC) is required for autophagy. TipC/VPS13A-null cells show a reduced number of autophagosomes and impaired autophagic flux. The C-terminal region containing the ATG2-homology domain and DUF1162 is sufficient to complement the mutant phenotype. Human VPS13A knockdown in HeLa cells also causes accumulation of autophagic markers and impaired autophagic flux. Genetic knockout in Dictyostelium, GFP-Atg18 and GFP-Atg8 autophagosome markers, proteolytic cleavage autophagic flux assay, domain complementation, siRNA knockdown in HeLa cells Autophagy High 25996471
2019 VPS13A interacts with RAB7A (a key endosomal trafficking regulator) in both Dictyostelium and human HeLa cells. Loss of VPS13A impairs endocytic trafficking and lysosomal degradation, and disrupts membrane contact sites between mitochondria-endosomes and mitochondria-ER. Co-immunoprecipitation of VPS13A and RAB7A in HeLa cells, Dictyostelium genetic studies, endolysosomal marker analysis Disease models & mechanisms Medium 30709847
2020 XK forms a protein complex with VPS13A in human cells. Overexpressed XK relocalizes VPS13A from lipid droplets to subdomains of the ER. Two ChAc disease-linked missense mutations in VPS13A prevent this XK-induced relocalization, suggesting XK is a partner that recruits VPS13A to specific contact sites. Co-immunoprecipitation in human cells, overexpression relocalization assay, disease-mutant VPS13A analysis Molecular biology of the cell Medium 32845802
2022 VPS13A localizes at ER-plasma membrane (ER-PM) contact sites via binding of its PH domain to a cytosolic loop of the lipid scramblase XK. This interaction is regulated by an intramolecular interaction within XK. Binding of the VPS13A PH domain to XK is competitive with its binding to intracellular membranes mediating other tethering functions. Both VPS13A and XK are highly expressed in caudate neurons. Co-localization imaging, domain-level binding assays (PH domain), AlphaFold structural modeling, competitive binding assays, cell-type expression analysis Proceedings of the National Academy of Sciences of the United States of America High 35994651
2022 In mouse T cells, VPS13A and XK form a complex at the plasma membrane (confirmed by blue-native PAGE) and are essential for P2X7 receptor-mediated phosphatidylserine exposure, phosphatidylcholine internalization, and necrotic cell death in response to extracellular ATP. Null mutation in either Xk or Vps13a blocks these processes. CRISPR/Cas9 genome-wide screen, blue-native PAGE (complex detection), phospholipid scrambling assays (annexin V/PtdSer exposure), cell lysis assay, T cell transformation system Proceedings of the National Academy of Sciences of the United States of America High 35140185
2022 The pleckstrin homology (PH) domain at the C-terminal region of VPS13A is required for complex formation with XK and for co-localization of VPS13A with XK within the cell. AlphaFold modeling predicted an interaction surface between VPS13A and XK; mutations at this interface disrupt both complex formation and co-localization. Disease-causing truncating mutations in VPS13A patients remove the PH domain. Domain mutagenesis, co-immunoprecipitation, co-localization imaging, AlphaFold structural modeling Journal of cell science Medium 35950506
2023 The sorting nexin SNX5 interacts with VPS13A and mediates its association with endosomal subdomains. This interaction involves the VPS13 adaptor-binding (VAB) domain of VPS13A and a PxP motif in SNX5. Mutation of a conserved asparagine in the VAB domain (also pathogenic in VPS13D) impairs this interaction. VPS13A C-terminal domain directs localization to mitochondria, while VAB-domain-containing fragments co-localize with SNX5 at endosomes. Co-immunoprecipitation, domain truncation/mutation analysis, co-localization imaging, yeast comparative genetics Life science alliance Medium 36977596
2023 VPS13A directly interacts with ATG9A (the autophagy transmembrane lipid scramblase) and forms a complex distinct from the ATG9A-ATG2A complex, as revealed by mass spectrometry-based interactome analysis and validated biochemically. Immunoprecipitation mass spectrometry (interactome), biochemical complex validation Journal of cell science Medium 38294121
2023 VPS13A interaction with XK at ER-PM contacts is cell-type/state dependent. In hemin-differentiated K562 erythroblast-like cells, tagged VPS13A robustly forms ER-PM contacts that require XK (abolished in XK KO cells). In undifferentiated K562 cells, despite similar XK levels, ER-PM contacts are rarely observed, indicating a permissive cellular state is required. Overexpression co-localization imaging in K562 cells ± hemin differentiation, XK CRISPR KO, quantitative contact site analysis Contact (Thousand Oaks (Ventura County, Calif.)) Medium 38144430
2022 Loss of VPS13A (or VPS13C) in U-2 OS cells results in reduced lipid droplet abundance under oleate-stimulated conditions, implicating VPS13A in lipid droplet regulation at ER-lipid droplet contact sites. CRISPR-Cas9 knockout (exon 2 deletion/frameshift), lipid droplet quantification under oleate stimulation Contact (Thousand Oaks (Ventura County, Calif.)) Medium 36147729
2012 In differentiated PC12 cells, VPS13A (chorein) localizes to dense-core vesicles (DCVs) containing dopamine and co-localizes with synaptotagmin I at neurite termini. Stable expression of the C-terminal fragment of chorein increases K+-induced dopamine release, suggesting VPS13A is involved in exocytosis of DCVs. Immunocytochemistry, sucrose density gradient fractionation, dopamine release assay (K+-stimulated exocytosis), stable overexpression Biochemical and biophysical research communications Low 22366033
2020 VPS13A and VPS13C interact with TBC1D1 (a Rab-GTPase activating protein) in C2C12 myotubes via TBC1D1's phosphotyrosine binding (PTB) domains. Depletion of VPS13A causes a post-transcriptional increase in cellular GLUT4 protein and enhanced cell-surface GLUT4 upon AMPK activation, specifically affecting GLUT4 homeostasis. Quantitative proteomics (unbiased Co-IP-MS), domain mapping, siRNA depletion, GLUT4 cell-surface assay (AMPK-stimulated) Scientific reports Medium 33087848
2015 VPS13A (chorein) promotes PI3K activation and supports cell survival signaling: siRNA silencing in rhabdomyosarcoma cells reduces phosphorylated PI3K, downregulates BCL-2, upregulates BAX, causes mitochondrial depolarization, caspase-3 activation, and apoptosis. siRNA silencing, Western blot (phospho-PI3K, BCL-2, BAX), FACS apoptosis analysis, mitochondrial membrane potential assay Oncotarget Low 25871399
2025 Absence of VPS13A impairs autophagy in skeletal muscle, leading to pathologic metabolic remodeling, increased protein/lipid oxidation, defects in myofibril stability, and accumulation of the senescence marker NCAM1 in Vps13a-/- mice. Rapamycin treatment rescued accumulation of LAMP1, p62, and NCAM1, linking impaired autophagy to accelerated aging in the absence of VPS13A. Vps13a-/- mouse model, starvation/colchicine autophagy assay, rapamycin rescue, patient muscle biopsies, proteomics, immunohistochemistry Acta neuropathologica communications Medium 40275365
2023 VPS13A knockdown in cortical neurons and striatum of mice increases DAG species, reduces PKCβII concentration while increasing PKCα/βII phosphorylation, and causes increased neuronal branching, decreased BDNF and PSD-95, impaired corticostriatal long-term depression (LTD), and hyperlocomotion. Pharmacological inhibition of PKCβII rescues aberrant neuronal morphology and spine density loss. Lipidomics (DAG quantification), Western blot (PKC isoforms and phosphorylation), AAV-mediated VPS13A knockdown in vivo, electrophysiology (LTD), behavioral assays, pharmacological rescue (PKCβII inhibitor) BMC biology Medium 42237281
2026 Cryo-EM structure of VPS13A complexed with the scramblase XKR1 at near-atomic resolution shows that VPS13A interacts with XKR1 via its PH domain, orienting VPS13A's lipid-transfer domain to deliver lipids to the cytosolic leaflet of the acceptor membrane. Molecular dynamics simulations confirm robust lipid transfer in this configuration, with scramblase activity allowing equilibration of newly transferred lipids between membrane leaflets. Cryo-electron microscopy (near-atomic resolution), molecular dynamics simulations bioRxivpreprint High 41542425
2026 Mutational analysis of the VPS13A-XK interaction interface revealed that VPS13A binds XK through a C-terminal β-strand that interacts with a β-hairpin in the central region of XK, and this interaction is essential for scramblase activity. Ten patient-derived VPS13A variants were classified into four functional groups: (a) reduced expression (L67P, I90K, W2453R); (b) normal expression but absent scramblase activity (A1091P, M3080R); (c) modest impairment of expression or activity; and (d) a gain-of-function variant (I2763R) that alters cell size and disrupts ER independently of XK. XKR2, a XK paralog with a similar β-hairpin, also associates with VPS13A and supports phospholipid scrambling. Site-directed mutagenesis, phospholipid scrambling functional assay, Western blot (expression), cell morphology analysis, mouse cell expression system The Journal of clinical investigation High 41874565
2026 Loss of VPS13A in patient-derived fibroblasts causes impaired lipid transfer into mitochondria, reduced lipid droplet formation, disturbance of membrane contact sites, and unusual mitochondrial calcium uptake behavior, as demonstrated by labeled fatty acid tracking and mitochondrial calcium indicator assays. Labeled fatty acid transfer assay, mitochondrial calcium indicator (Rhod-2 AM), super-resolution microscopy (Airyscan2), VPS13A-deficient patient fibroblasts vs. healthy controls Movement disorders Medium 41552990
2025 VPS13A and VPS13C have partially redundant lipid transfer functions: single Vps13a or Vps13c KO mice are viable, but double KO (DKO) mice die at midgestation with defective erythropoiesis, innate immune activation (upregulation of ISGs, RIG-I, MDA5), suggesting that combined loss of lipid flux from both proteins causes loss of organelle membrane integrity. Vps13a/Vps13c double knockout mouse, embryonic phenotyping, erythroid differentiation assays, innate immunity gene expression profiling PLoS biology High 40956846
2026 ATG9A lipid scramblase activity and VPS13A lipid transfer protein activity are both required for efficient plasma membrane repair in mammalian cells. Plasma membrane damage assay, genetic knockdown/KO of ATG9A and VPS13A, functional complementation Proceedings of the National Academy of Sciences of the United States of America Medium 42044337

Source papers

Stage 0 corpus · 78 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites. The Journal of cell biology 475 30093493
2019 Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. eLife 133 30741634
2002 Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. European journal of human genetics : EJHG 116 12404112
2015 TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells. Autophagy 86 25996471
2019 VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation. Disease models & mechanisms 76 30709847
2022 A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. Proceedings of the National Academy of Sciences of the United States of America 71 35994651
2011 Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 54 21598378
2020 XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome. Molecular biology of the cell 48 32845802
1968 Developmental changes of choline acetyltransferase (ChAc) activity in chick embryo spinal and sympathetic ganglia. Journal of neurochemistry 45 18561487
2022 Requirement of Xk and Vps13a for the P2X7-mediated phospholipid scrambling and cell lysis in mouse T cells. Proceedings of the National Academy of Sciences of the United States of America 43 35140185
2019 Selection on VPS13A linked to migration in a songbird. Proceedings of the National Academy of Sciences of the United States of America 40 31451666
2021 ChaC glutathione specific γ-glutamylcyclotransferase 1 inhibits cell viability and increases the sensitivity of prostate cancer cells to docetaxel by inducing endoplasmic reticulum stress and ferroptosis. Experimental and therapeutic medicine 36 34345279
2022 Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans. Journal of cell science 32 35950506
2005 Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics 26 15918062
2022 VPS13A and VPS13C Influence Lipid Droplet Abundance. Contact (Thousand Oaks (Ventura County, Calif.)) 25 36147729
2022 XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 21 35221863
2003 Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis. Neurology 20 14663054
2024 Exploring the ATG9A interactome uncovers interaction with VPS13A. Journal of cell science 19 38294121
2016 Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation. Epilepsia 19 26813249
2012 Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells. Biochemical and biophysical research communications 19 22366033
2008 A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A. Acta neuropathologica 19 18584183
1999 Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC). Genomics 18 10191087
2019 Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. Neurology. Genetics 17 31192303
2015 Chorein addiction in VPS13A overexpressing rhabdomyosarcoma cells. Oncotarget 17 25871399
2020 TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. Scientific reports 16 33087848
2022 An association of CEP78, MEF2C, VPS13A and ARRDC3 genes with survivability to heat stress in an F2 chicken population. Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 15 35218583
2023 Erythroid Differentiation Dependent Interaction of VPS13A with XK at the Plasma Membrane of K562 Cells. Contact (Thousand Oaks (Ventura County, Calif.)) 13 38144430
2017 Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review. Frontiers in aging neuroscience 13 28446873
2006 Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C. Biochemical and biophysical research communications 12 17196930
2022 The XK plasma membrane scramblase and the VPS13A cytosolic lipid transporter for ATP-induced cell death. BioEssays : news and reviews in molecular, cellular and developmental biology 10 35996795
2019 Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. Frontiers in neurology 10 30687222
2023 An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis). Movement disorders : official journal of the Movement Disorder Society 9 37670483
2023 The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5. Life science alliance 8 36977596
2023 Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). Molecular genetics and genomics : MGG 8 37209156
2021 Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A. Frontiers in neuroscience 7 33679298
2021 Unraveling the Spatiotemporal Distribution of VPS13A in the Mouse Brain. International journal of molecular sciences 7 34884823
2022 The ChaC family of γ-glutamyl cyclotransferases is required for Leishmania to switch to a slow growth state and for long-term survival of the parasite. The Journal of biological chemistry 6 36126772
2020 Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis. Molecular genetics & genomic medicine 6 32056394
2024 Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis. Movement disorders : official journal of the Movement Disorder Society 5 39665525
2020 Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report. BMC medical genetics 5 32131761
2020 Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances. Translational psychiatry 5 33159041
2018 Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. Neurology. Genetics 5 29845114
2025 Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy. Acta neuropathologica communications 4 40275365
2023 Effect of rapamycin on lysosomal accumulation in a CRISPR/Cas9-based cellular model of VPS13A deficiency. Journal of cellular and molecular medicine 4 37163371
2021 Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures. Case reports in neurology 4 34248567
2026 Molecular insights into bulk lipid transport from structural studies of the bridge-like protein VPS13A complexed with the scramblase XKR1. bioRxiv : the preprint server for biology 3 41542425
2025 Impaired hematopoiesis and embryonic lethality at midgestation of mice lacking both lipid transfer proteins VPS13A and VPS13C. PLoS biology 3 40956846
2024 Analysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a Gene in C57BL/6N Mice. International journal of molecular sciences 3 39063018
2024 Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease. Frontiers in neurology 3 39659962
2023 VPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis. Neurobiology of disease 3 37714309
2023 Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report. BMC neurology 3 37794323
2022 Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature. Laboratory medicine 3 35075478
2025 A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary. International journal of molecular sciences 2 41373679
2025 The strategic breakdown: CHAC enzymes as regulators of glutathione homeostasis and disease implications. Frontiers in molecular biosciences 2 41488051
2024 Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc). Molecular genetics and genomics : MGG 2 38519717
2023 Characterization of glutathione-specific gamma glutamyl cyclotransferase (ChaC) in Bombyx mori. Archives of insect biochemistry and physiology 2 37283485
2022 Establishment and characterization of human induced pluripotent stem cell line from a Parkinson's disease patient harboring VPS13A gene mutation. Stem cell research 2 35093716
2022 Circular RNA-VPS13A attenuates diabetes-induced enteric glia damage by targeting miR-182/GDNF Axis. Acta biochimica et biophysica Sinica 2 35880571
2021 Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A. Frontiers in neuroscience 2 33994941
2025 Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families. Frontiers in neurology 1 40917663
2025 The Diverse Neuromuscular Spectrum of VPS13A Disease. Annals of clinical and translational neurology 1 41030128
2024 Soybean isoflavones protect dopaminergic neurons from atrazine damage by inhibiting VPS13A to increase autophagy. Ecotoxicology and environmental safety 1 39427538
2019 Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis. Case reports in psychiatry 1 31139485
2026 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 0 41552990
2026 Four subtypes of disease-causing missense mutations underlie pathogenic protein interactions in neurodegenerative VPS13A disease. The Journal of clinical investigation 0 41874565
2026 ATG9A-mediated plasma membrane repair is linked to Vps13A and regulated by glycosylation. Proceedings of the National Academy of Sciences of the United States of America 0 42044337
2026 Neuronal VPS13A depletion links diacylglycerol PKC signaling and synaptic spines. BMC biology 0 42237281
2025 [Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)]. Ideggyogyaszati szemle 0 40042450
2025 Defect in hematopoiesis and embryonic lethality at midgestation of Vps13a/Vps13c double knockout mice. bioRxiv : the preprint server for biology 0 40463036
2025 Chorea and seizures in a patient with a rare VPS13A gene mutation and neuroacanthocytosis. BMJ case reports 0 41107050
2025 A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis. Neurogenetics 0 41123725
2024 Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders? Frontiers in neuroscience 0 38903599
2024 Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage. Frontiers in neurology 0 38933328
2024 Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry. Frontiers in neuroscience 0 39416949
2024 Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report. Neurology. Genetics 0 39588054
2024 A novel cryptic splice donor due to synonymous variant in VPS13A as an underlying cause of a chorea-acanthocytosis in a large family. Heliyon 0 39640746
2023 A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 0 37985634
2021 [Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 0 34693697

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