Affinage

VPS13B

Intermembrane lipid transfer protein VPS13B · UniProt Q7Z7G8

Length
4022 aa
Mass
448.7 kDa
Annotated
2026-04-28
100 papers in source corpus 13 papers cited in narrative 13 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

VPS13B is a large peripheral membrane protein that functions as a lipid transfer bridge at multiple organellar contact sites, maintaining Golgi ribbon integrity, facilitating ER-to-Golgi transport, and promoting mitochondrial fission. It localizes to the cis-trans Golgi interface where it is recruited by RAB6-GTP and by Sec23IP at ERES-Golgi contacts via its VAB domain; loss of VPS13B causes Golgi fragmentation, failure to form tubular ERGIC carriers, impaired procollagen secretion, and defective neurite outgrowth (PMID:21865173, PMID:25492866, PMID:39352497, PMID:39331042). VPS13B also localizes to Mitofusin 2-positive mitochondria where it delivers PI4P-rich Golgi-derived vesicles to fission sites, enabling DRP1-independent membrane scission; its loss produces elongated mitochondria with reduced membrane potential and impaired mitophagy (PMID:41402289). Biallelic loss-of-function mutations in VPS13B cause Cohen syndrome, an autosomal recessive disorder characterized by intellectual disability, microcephaly, joint laxity, and retinal dystrophy, phenotypes recapitulated in knockout mouse models showing microcephaly, motor and cognitive deficits, and cataracts (PMID:12730828, PMID:37573958, PMID:32915983).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2003 Low

    Identification of VPS13B/COH1 as the gene mutated in Cohen syndrome established its disease relevance but left its cellular function unknown beyond homology to yeast vacuolar protein sorting factor Vps13.

    Evidence Positional cloning, sequence analysis, and homology to S. cerevisiae VPS13

    PMID:12730828

    Open questions at the time
    • Homology-based prediction only; no direct functional data for the human protein
    • Subcellular localization not determined
    • No biochemical activity established
  2. 2011 High

    Demonstration that VPS13B is a peripheral cis-Golgi membrane protein whose depletion fragments the Golgi ribbon established Golgi maintenance as its primary cellular function and linked Golgi disruption to Cohen syndrome pathology.

    Evidence Immunofluorescence co-localization with GM130, RNAi knockdown, subcellular fractionation, and patient fibroblast analysis

    PMID:21865173

    Open questions at the time
    • Mechanism of Golgi recruitment unknown
    • No direct interacting partners identified
    • Whether Golgi fragmentation is cause or consequence of downstream phenotypes unclear
  3. 2014 High

    Discovery that VPS13B is a RAB6 effector — binding preferentially to GTP-bound RAB6 — explained how VPS13B is recruited to Golgi membranes and connected Golgi integrity to neurite outgrowth in primary neurons.

    Evidence Co-immunoprecipitation with RAB6 mutants (constitutively active Q72L, dominant-negative T27N), membrane solubilization assay, RAB6 RNAi, and neuron morphology assay

    PMID:25492866

    Open questions at the time
    • Whether RAB6 is the sole Golgi recruiter or acts in concert with other factors
    • Molecular mechanism by which VPS13B maintains Golgi structure unresolved
    • Lipid transfer activity not yet demonstrated
  4. 2019 Medium

    Vps13b knockout mice recapitulated key Cohen syndrome features — motor deficits, spatial learning impairment — validating the mouse as a disease model and confirming a neuronal requirement for VPS13B in vivo.

    Evidence Mouse Vps13b exon 2 deletion, behavioral testing (open field, rotarod, Morris water maze)

    PMID:31495077

    Open questions at the time
    • Cellular and circuit-level mechanisms underlying behavioral deficits not explored
    • Single knockout allele studied
  5. 2020 Medium

    VPS13B loss was shown to upregulate autophagy and cause autophagic vacuole accumulation at axonal terminals, revealing a connection between Golgi dysfunction and autophagosome dysregulation in Cohen syndrome neurons; separately, Vps13b KO mice developed cataracts with lens vacuolation and fibrosis, extending the phenotypic spectrum.

    Evidence iPSC-derived neurons from patients, CRISPR KO HeLa cells with autophagic flux assays and transcriptomics; Vps13b KO mouse ophthalmoscopy, histology, immunohistochemistry

    PMID:32375900 PMID:32915983

    Open questions at the time
    • Whether autophagy upregulation is compensatory or pathogenic unclear
    • Direct mechanistic link between Golgi fragmentation and autophagy induction not established
    • Lens phenotype mechanism not connected to known VPS13B molecular functions
  6. 2023 High

    Super-resolution imaging refined VPS13B localization to the cis-trans Golgi interface and identified FAM177A1 as a physical interactor whose loss phenocopies VPS13B deficiency, while comprehensive KO mouse analysis revealed microcephaly, neuroanatomical changes, and infantile neuronal death — establishing both a new binding partner and the developmental window of VPS13B requirement.

    Evidence Super-resolution microscopy, BFA-washout Golgi reformation assay, co-IP, zebrafish genetic interaction, KO mouse 2D/3D brain morphometry and behavioral testing

    PMID:37573958 PMID:39331042

    Open questions at the time
    • Function of FAM177A1 in the VPS13B complex not determined
    • Whether VPS13B acts as a lipid channel at the cis-trans interface not tested
    • Mechanism of infantile neuronal death not defined
  7. 2024 High

    Identification of Sec23IP as the adaptor that recruits VPS13B to ERES-Golgi contacts via the VAB domain, and demonstration that this interaction is required for tubular ERGIC formation and procollagen export, provided a molecular mechanism for the joint laxity phenotype in Cohen syndrome.

    Evidence Co-IP, VAB domain mutagenesis with disease-associated missense mutations, ERGIC tubule formation assay, procollagen secretion assay, KO cell lines

    PMID:39352497

    Open questions at the time
    • Whether VPS13B transfers lipids at ERES-Golgi contacts specifically is not shown
    • Structural basis of VAB-Sec23IP interaction unresolved
    • In vivo validation of procollagen trafficking defect in animal models lacking
  8. 2025 High

    VPS13B was shown to localize to MFN2-positive mitochondria and deliver PI4P-rich Golgi vesicles to mitochondrial fission sites, enabling membrane scission independently of DRP1 constriction; this established VPS13B as a lipid transfer protein linking Golgi and mitochondrial biology and explained the elongated mitochondria and impaired mitophagy in Cohen syndrome.

    Evidence Live-cell imaging, mitochondrial morphology and membrane potential measurements, mitophagy assays, PI4P depletion, DRP1 recruitment assay, C-terminal domain mapping, patient iPSC-derived neurons

    PMID:41402289

    Open questions at the time
    • Direct lipid transfer activity not reconstituted in vitro with purified protein
    • Whether PI4P is the sole lipid species transferred is unknown
    • Relative contribution of Golgi versus mitochondrial dysfunction to Cohen syndrome phenotypes not dissected
  9. 2026 Medium

    VPS13B was found to regulate surface trafficking of the tight junction protein CXADR by preventing its lysosomal degradation, revealing a cargo-specific role in epithelial barrier maintenance relevant to periodontal pathology in Cohen syndrome.

    Evidence VPS13B KO gingival epithelial cells, surface CXADR assay, bafilomycin A1 rescue, CXADR-JAM1 chimera, epithelial permeability assay

    PMID:41730960

    Open questions at the time
    • Mechanism by which VPS13B sorts CXADR away from lysosomes not defined
    • Whether this trafficking role is direct or secondary to Golgi disruption unclear
    • Single study, awaits independent confirmation

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include whether VPS13B functions as a bona fide lipid transfer channel (no in vitro reconstitution exists), how its multiple organellar localizations are coordinately regulated, and which specific VPS13B functions — Golgi maintenance, ER-Golgi transport, or mitochondrial fission — are primarily responsible for neurodevelopmental pathology in Cohen syndrome.
  • No in vitro lipid transfer reconstitution with purified VPS13B
  • No high-resolution structure of full-length VPS13B or its lipid-binding channel
  • Relative pathogenic contribution of Golgi vs. mitochondrial vs. trafficking defects to Cohen syndrome phenotypes not resolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 2 GO:0008289 lipid binding 1
Localization
GO:0005794 Golgi apparatus 5 GO:0005739 mitochondrion 1 GO:0005783 endoplasmic reticulum 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 4 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-9609507 Protein localization 2 R-HSA-9612973 Autophagy 1
Partners
CXADRFAM177A1MFN2RAB6ASEC23IP

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 COH1/VPS13B encodes a putative transmembrane protein of 4,022 amino acids with homology to Saccharomyces cerevisiae VPS13, suggesting a role in vesicle-mediated sorting and intracellular protein transport. Sequence analysis, homology to yeast Vps13, gene characterization American journal of human genetics Low 12730828
2011 COH1/VPS13B is a peripheral Golgi membrane protein that co-localizes with the cis-Golgi matrix protein GM130; RNAi-mediated depletion causes fragmentation of the Golgi ribbon into ministacks, and Golgi fragmentation is also observed in fibroblasts from Cohen syndrome patients. Immunofluorescence co-localization, RNAi knockdown, patient fibroblast analysis, subcellular fractionation The Journal of biological chemistry High 21865173
2014 COH1/VPS13B physically interacts with the active GTP-bound form of RAB6 at the Golgi complex; RAB6A/A' knockdown prevents COH1 Golgi localization, constitutively inactive RAB6_T27N increases solubilization of COH1 from membranes, and co-IP confirms preferential interaction with constitutively active RAB6_Q72L. COH1 depletion in primary neurons impairs neurite outgrowth, linking Golgi integrity to axonal outgrowth. Co-immunoprecipitation, RNAi knockdown, dominant-negative/constitutively active RAB6 mutants, membrane solubilization assay, primary neuron morphology assay The Journal of biological chemistry High 25492866
2019 Vps13b mutant mice (exon 2 deletion) display motor deficits (reduced open field activity, shorter rotarod latency) and spatial learning deficits (Morris water maze), recapitulating intellectual disability and hypotonia features of Cohen syndrome. Mouse knockout model, behavioral testing (open field, rotarod, Morris water maze) Experimental neurobiology Medium 31495077
2020 VPS13B loss (patient iPSC-derived neurons and CRISPR KO HeLa cells) leads to accumulation of autophagic vacuoles at axonal terminals and upregulation of autophagic flux; transcriptomic analysis reveals dysregulation of autophagosome organization genes including upregulation of ATG4C. iPSC-derived neurons from Cohen syndrome patients, CRISPR/Cas9 VPS13B KO HeLa cells, autophagic flux assays, transcriptomic analysis Molecular brain Medium 32375900
2020 In a Vps13b knockout mouse model, VPS13B participates in lens homeostasis; loss of VPS13B leads to cataract formation associated with large vacuoles in the cortical lens area, epithelial-mesenchymal transition, and fibrosis. Vps13b knockout mouse (Vps13b∆Ex3/∆Ex3), ophthalmoscopy, slit-lamp examination, histology, immunohistochemistry, western blot Investigative ophthalmology & visual science Medium 32915983
2023 Vps13b is differentially expressed across brain regions with highest expression in cerebellum, hippocampus, and cortex with postnatal peak; Vps13b-/- mice display microcephaly, growth delay, hypotonia, altered memory, and enhanced sociability. Specific neuroanatomical changes include reduction in dentate gyrus size and thinning of motor cortex layer VI, with increased neuronal death during infantile stages but no progression in adulthood. Vps13b knockout mouse model, 2D and 3D brain histo-morphological analyses, behavioral testing, expression profiling across brain regions Neurobiology of disease Medium 37573958
2023 VPS13B localizes at the interface between proximal and distal Golgi subcompartments (cis-trans interface); VPS13B KO cells show delayed Golgi complex reformation after Brefeldin A-induced disruption. VPS13B physically interacts with FAM177A1, a Golgi protein whose loss phenocopies VPS13B KO delay. In zebrafish, vps13b genetically interacts with fam177a1. Super-resolution microscopy, BFA-washout Golgi reformation assay, co-IP/interaction studies, zebrafish genetic interaction The Journal of cell biology High 39331042
2024 VPS13B is recruited to ER exit site (ERES)-Golgi interfaces by the adaptor protein Sec23IP via direct interaction through the VPS13 adaptor binding (VAB) domain. This interaction promotes ERES-Golgi association. Disease-associated missense mutations in VPS13B-VAB impair Sec23IP binding. Loss of VPS13B or Sec23IP blocks formation of tubular ERGIC (an unconventional ER-to-Golgi cargo carrier) and delays ER export of procollagen, linking VPS13B function to joint laxity in Cohen syndrome patients. Co-IP, direct interaction mapping, VAB domain mutagenesis, ERGIC tubule formation assay, procollagen secretion assay, KO cell lines The Journal of cell biology High 39352497
2023 VPS13B localizes to and promotes formation of Golgi-lipid droplet membrane contact sites (MCSs) upon oleic acid stimulation; depletion of VPS13B moderately reduces Golgi-LD contact formation in addition to causing Golgi fragmentation. 3D high-resolution microscopy, oleic acid stimulation, VPS13B depletion Contact (Thousand Oaks) Low 38090145
2025 VPS13B localizes to Mitofusin 2-positive mitochondria via its C-terminal region and recruits phosphatidylinositol-4-phosphate (PI4P)-rich Golgi vesicles to mitochondrial fission sites. Loss of VPS13B (including in Cohen syndrome patient-derived neurons) causes abnormally elongated/fused mitochondria with reduced membrane potential and impaired mitophagy. Loss of VPS13B or depletion of PI4P results in incomplete mitochondrial fission despite normal DRP1 recruitment, indicating VPS13B-mediated lipid transfer is required for membrane fission. Live-cell imaging, mitochondrial morphology assays, membrane potential measurements, mitophagy assays, PI4P depletion, DRP1 recruitment assay, patient iPSC-derived neurons, C-terminal domain localization mapping Nature communications High 41402289
2021 A VPS13B missense variant (c.710G>C, p.Arg237Pro) shows diminished localization at the Golgi complex by immunofluorescence, establishing that Golgi targeting is functionally relevant for VPS13B and that specific missense mutations disrupt this localization. Functional characterization of missense variant, immunofluorescence Golgi localization assay Frontiers in neuroscience Medium 39723426
2026 VPS13B regulates intracellular trafficking of the tight junction protein coxsackievirus and adenovirus receptor (CXADR) in gingival epithelial cells; VPS13B knockout causes decreased cell-surface CXADR and increased lysosomal CXADR degradation (bafilomycin A1 rescue), leading to increased epithelial permeability to LPS and PGN. The C-terminus of CXADR (not JAM1) is required for VPS13B-dependent trafficking. VPS13B KO cell lines, surface localization assay, bafilomycin A1 treatment, chimeric CXADR-JAM1 construct, epithelial permeability assay Scientific reports Medium 41730960

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. American journal of human genetics 269 12730828
2011 Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. The Journal of biological chemistry 117 21865173
2005 The chitin synthase genes chs-1 and chs-2 are essential for C. elegans development and responsible for chitin deposition in the eggshell and pharynx, respectively. Developmental biology 115 16098962
2001 Chs1 of Candida albicans is an essential chitin synthase required for synthesis of the septum and for cell integrity. Molecular microbiology 113 11251855
2001 Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. Journal of immunology (Baltimore, Md. : 1950) 87 11254716
1990 Isolation of a chitin synthase gene (CHS1) from Candida albicans by expression in Saccharomyces cerevisiae. Molecular microbiology 86 2140148
2009 Surfome analysis as a fast track to vaccine discovery: identification of a novel protective antigen for Group B Streptococcus hypervirulent strain COH1. Molecular & cellular proteomics : MCP 82 19401597
2011 Traffic of chitin synthase 1 (CHS-1) to the Spitzenkörper and developing septa in hyphae of Neurospora crassa: actin dependence and evidence of distinct microvesicle populations. Eukaryotic cell 80 21296914
2014 Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. The Journal of biological chemistry 76 25492866
2000 Proper ascospore maturation requires the chs1+ chitin synthase gene in Schizosaccharomyces pombe. Molecular microbiology 68 10632879
2004 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American journal of human genetics 63 15154116
2009 Disruption of the chitin synthase gene CHS1 from Fusarium asiaticum results in an altered structure of cell walls and reduced virulence. Fungal genetics and biology : FG & B 55 19941967
2021 A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Science advances 53 33547071
2013 A missense mutation in CHS1, a TIR-NB protein, induces chilling sensitivity in Arabidopsis. The Plant journal : for cell and molecular biology 53 23651299
2016 Temperature-dependent autoimmunity mediated by chs1 requires its neighboring TNL gene SOC3. The New phytologist 52 27699788
1997 Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Human molecular genetics 51 9215679
2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of medical genetics 50 16648375
2009 Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Human mutation 49 19533689
2018 TIR-NB-LRR immune receptor SOC3 pairs with truncated TIR-NB protein CHS1 or TN2 to monitor the homeostasis of E3 ligase SAUL1. The New phytologist 47 30317650
2013 A TIR-NBS protein encoded by Arabidopsis Chilling Sensitive 1 (CHS1) limits chloroplast damage and cell death at low temperature. The Plant journal : for cell and molecular biology 45 23617639
2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human mutation 43 19006247
1995 Promoter elements of the mustard CHS1 gene are sufficient for light regulation in transgenic plants. Plant molecular biology 43 7599308
2004 Genetic analysis of chs1+ and chs2+ encoding chitin synthases from Schizosaccharomyces pombe. Bioscience, biotechnology, and biochemistry 42 15277753
2014 Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. PLoS genetics 38 25502226
1998 Molecular analysis of chitin synthase 1 (CHS1) gene sequences of Trichophyton mentagrophytes complex and T. rubrum. Current microbiology 37 9732529
2009 A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family. Bioinformatics (Oxford, England) 35 19289442
2005 Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Molecular genetics and metabolism 35 15896657
2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. Journal of medical genetics 32 20656880
2020 A novel VPS13B mutation in Cohen syndrome: a case report and review of literature. BMC medical genetics 30 32605629
2018 Plant-mediated RNAi of grain aphid CHS1 gene confers common wheat resistance against aphids. Pest management science 30 29737050
2003 Molecular taxonomy of dermatophytes and related fungi by chitin synthase 1 (CHS1) gene sequences. Antonie van Leeuwenhoek 30 12755475
2010 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. European journal of human genetics : EJHG 28 20461111
1989 Hormone-induced expression of the CHS1 gene from Saccharomyces cerevisiae. European journal of biochemistry 28 2523800
2017 The N-terminal Region of Nisin Is Important for the BceAB-Type ABC Transporter NsrFP from Streptococcus agalactiae COH1. Frontiers in microbiology 27 28912758
2002 Analysis of the duplicated CHS1 gene related to the suppression of the seed coat pigmentation in yellow soybeans. TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik 25 12582616
2020 SUSA2 is an F-box protein required for autoimmunity mediated by paired NLRs SOC3-CHS1 and SOC3-TN2. Nature communications 24 33060601
2019 RNAi-Mediated Knockdown of Chitin Synthase 1 (CHS1) Gene Causes Mortality and Decreased Longevity and Fecundity in Aphis gossypii. Insects 24 31888020
2009 Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 23 19680589
2008 Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. American journal of medical genetics. Part A 22 18655112
2003 Direct detection of dermatophytes in skin samples based on sequences of the chitin synthase 1 (CHS1) gene. The Journal of veterinary medical science 22 12655126
2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC medical genetics 21 26104215
1995 Cis-acting elements of the CHS1 gene from white mustard controlling promoter activity and spatial patterns of expression. Plant molecular biology 20 7599309
2017 First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. BMC medical genetics 17 29149870
2018 CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. European journal of medical genetics 15 30602132
2016 Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. BMC medical genetics 15 27832746
2012 Evaluation of Chitine synthase (CHS1) polymerase chain reaction assay in diagnosis of dermatophyte onychomycosis. Journal de mycologie medicale 15 23518083
2004 Bph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting. Traffic (Copenhagen, Denmark) 15 15296494
1999 Phylogenetic relation of Epidermophyton floccosum to the species of Microsporum and Trichophyton in chitin synthase 1 (CHS1) gene sequences. Mycopathologia 15 10823181
2019 Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse. Experimental neurobiology 14 31495077
2013 Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. American journal of medical genetics. Part A 14 24311531
2001 Chitin synthase 1 (Chs1) gene sequences of Microsporum equinum and Trichophyton equinum. Veterinary microbiology 14 11118744
2024 Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation. The Journal of cell biology 13 39352497
2019 Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms. BMC medical genetics 13 31752730
2020 Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. Molecular brain 12 32375900
2019 Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Acta ophthalmologica 12 31580008
2019 A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. American journal of medical genetics. Part A 12 31825161
2014 Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients. Journal of pediatric hematology/oncology 12 24072239
2024 VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1. The Journal of cell biology 11 39331042
2009 A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. European journal of human genetics : EJHG 11 19190672
2023 A Possible Role of VPS13B in the Formation of Golgi-Lipid Droplet Contacts Associating with the ER. Contact (Thousand Oaks (Ventura County, Calif.)) 10 38090145
2019 Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. Journal of molecular neuroscience : MN 10 31444703
2010 Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome. Case reports in medicine 10 21209802
2002 Molecular identification of Trichophyton rubrum isolate from a dog by chitin synthase 1 (CHS1) gene analysis. Medical mycology 9 12230227
2019 TRE1 and CHS1 contribute to deltamethrin resistance in Culex pipiens pallens. Archives of insect biochemistry and physiology 8 30784111
2024 RNAi silencing CHS1 gene shortens the mortality time of Plutella xylostella feeding Bt-transgenic Brassica napus. Pest management science 7 38252693
2024 The G932C mutation of chitin synthase 1 gene (CHS1) mediates buprofezin resistance as confirmed by CRISPR/Cas9-mediated knock-in approach in the brown planthopper, Nilaparvata lugens. Pesticide biochemistry and physiology 7 38879307
2020 An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. European journal of medical genetics 7 32505691
2017 Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21). International journal of hematology 7 29264741
2015 Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea. Journal of pediatric hematology/oncology 7 25551669
2023 Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB. Neurogenetics 6 36780047
2021 A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome. Frontiers in pediatrics 6 33959574
2020 Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome. Journal of molecular neuroscience : MN 6 32170714
2020 Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors. Investigative ophthalmology & visual science 6 32915983
2023 Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected. Neurobiology of disease 5 37573958
2020 Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. Journal of molecular neuroscience : MN 5 33025479
2012 Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. Molecular syndromology 5 22855652
2022 Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion. Stem cell research 4 35944312
2021 A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. Ophthalmic genetics 4 34425733
2021 Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing. Pharmacogenomics and personalized medicine 4 34898996
2020 Gender-specific SBNO2 and VPS13B as a potential driver of osteoporosis development in male ankylosing spondylitis. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 4 32803317
2024 Role of chitin synthases CHS1 and CHS2 in biosynthesis of the cyst wall of Cryptocaryon irritans. International journal of biological macromolecules 3 39357726
2024 Streptococcus agalactiae strain COH1 transcriptome in association with stem cell-derived brain-like endothelial cells. Microbiology resource announcements 3 39526785
2023 Metarhizium robertsii COH1 functionally complements Schizosaccharomyces pombe Ecl family proteins. The Journal of general and applied microbiology 3 37813640
2023 VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1. bioRxiv : the preprint server for biology 3 38187698
2021 A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies. Case reports in immunology 3 34484844
2019 Cell membrane fatty acid and pigment composition of the psychrotolerant cyanobacterium Nodularia spumigena CHS1 isolated from Hopar glacier, Pakistan. Extremophiles : life under extreme conditions 3 31655895
2025 Widespread Distribution of chs-1 Mutations Associated with Resistance to Diflubenzuron Larvicide in Culex pipiens Across Italy, Reaching Virtual Fixation in the Venetian Lagoon. Insects 2 40003834
2024 Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN. Molecular genetics and genomics : MGG 2 38771357
2023 A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2 37090188
2021 A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome. Journal of molecular neuroscience : MN 2 34041686
2026 VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor. Scientific reports 1 41730960
2024 Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome. Frontiers in neuroscience 1 39723426
2023 Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series. Translational neuroscience 1 37692084
2023 Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy. Case reports in ophthalmology 1 37901634
2021 A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation. Clinical case reports 1 34322253
2020 [Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 32219832
2025 Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review. Pediatrics and neonatology 0 41390316
2025 VPS13B recruits lipid vesicles to promote mitochondrial fission and quality control. Nature communications 0 41402289
2023 Complete m6A and m4C methylomes for group B streptococcal clinical isolates CJB111, A909, COH1, and NEM316. Microbiology resource announcements 0 38099685
2021 Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. Stem cell research 0 35026660