Affinage

VPS13B

Intermembrane lipid transfer protein VPS13B · UniProt Q7Z7G8

Length
4022 aa
Mass
448.7 kDa
Annotated
2026-06-11
67 papers in source corpus 15 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

VPS13B/COH1 is a large peripheral membrane protein that operates at organelle membrane interfaces to maintain Golgi architecture and secretory trafficking, with loss of function underlying the multisystem features of Cohen syndrome (PMID:21865173, PMID:39352497). It is a peripheral Golgi membrane protein that co-localizes with the cis-Golgi matrix protein GM130 and concentrates at the interface between proximal and distal Golgi subcompartments; its depletion fragments the Golgi ribbon into ministacks and delays Golgi reformation, a phenotype shared with its functional partner FAM177A1 (PMID:21865173, PMID:39331042). Golgi recruitment is governed by two membrane determinants: the small GTPase RAB6, which binds VPS13B preferentially in its active form and is required for membrane association, and the ER-exit-site protein Sec23IP, which binds the VPS13B VAB domain to position the protein at ERES-Golgi interfaces where it drives tubular ERGIC formation and ER export of procollagen (PMID:25492866, PMID:39352497). Beyond the Golgi, VPS13B localizes via its C-terminal Mitofusin-2-binding region to mitochondria, where it delivers PI4P-rich Golgi-derived vesicles to fission sites; this lipid transfer is required for membrane scission downstream of DRP1 recruitment, and its loss yields elongated, fused mitochondria with impaired mitophagy (PMID:41402289). VPS13B additionally supports lysosomal homeostasis and TFEB-dependent lysosomal gene expression, regulates autophagic flux, and directs trafficking of the surface receptor CXADR to the plasma membrane to maintain epithelial barrier integrity (PMID:32375900, PMID:42104376, PMID:41730960). Disease-associated missense variants act by disrupting Golgi targeting or the Sec23IP interaction (PMID:39352497, PMID:39723426), and Vps13b-null mice recapitulate Cohen syndrome features including microcephaly, behavioral and motor deficits, and cataracts (PMID:32915983, PMID:37573958).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2003 Low

    Established the existence and broad expression of COH1/VPS13B and, by homology to yeast VPS13, first implicated it in vesicle-mediated sorting and intracellular protein transport.

    Evidence Gene cloning and sequence/homology analysis

    PMID:12730828

    Open questions at the time
    • Computational homology only, no direct functional assay on the protein
    • No subcellular localization demonstrated
    • No interacting partners identified
  2. 2011 High

    Resolved where VPS13B acts by showing it is a peripheral Golgi membrane protein whose loss fragments the Golgi ribbon, directly linking it to Golgi structural integrity and to Cohen syndrome patient cell phenotypes.

    Evidence Immunofluorescence co-localization with GM130, RNAi, cell fractionation, patient fibroblasts

    PMID:21865173

    Open questions at the time
    • Mechanism of Golgi recruitment unknown
    • No molecular partners identified
    • Functional consequence beyond morphology not addressed
  3. 2014 High

    Identified the first recruitment determinant by demonstrating RAB6-dependent Golgi association and a physical interaction preferential for active RAB6, and tied VPS13B loss to a neuronal phenotype (impaired neurite outgrowth).

    Evidence Co-IP with RAB6 mutants, dominant-negative/constitutively-active RAB6, membrane fractionation, primary neuron knockdown

    PMID:25492866

    Open questions at the time
    • Whether RAB6 is the sole recruitment factor unknown
    • Molecular activity of VPS13B not defined
    • Link between Golgi role and neurite outgrowth mechanistically unresolved
  4. 2024 High

    Defined a second recruitment mechanism and a secretory function: Sec23IP binds the VAB domain to position VPS13B at ERES-Golgi interfaces enabling tubular ERGIC formation and procollagen export, and disease VAB mutations disrupt this binding.

    Evidence Co-IP, direct interaction assay, disease-variant VAB mutagenesis, VPS13B/Sec23IP KO, live ERGIC imaging, procollagen secretion

    PMID:39352497

    Open questions at the time
    • How RAB6 and Sec23IP recruitment are coordinated unknown
    • Direct lipid transfer at ERES-Golgi not shown
    • Cargo selectivity beyond procollagen unclear
  5. 2024 High

    Pinpointed VPS13B to the cis-trans Golgi interface and identified FAM177A1 as a functional partner via phenocopy and zebrafish genetic interaction, extending the Golgi-integrity role to an in-vivo context.

    Evidence Super-resolution microscopy, Brefeldin A washout in KO cells, zebrafish double-mutant genetic interaction

    PMID:39331042

    Open questions at the time
    • Biochemical nature of FAM177A1-VPS13B relationship unknown
    • Whether FAM177A1 affects recruitment or function not distinguished
  6. 2023 Medium

    Extended VPS13B's contact-site repertoire to Golgi-lipid droplet contacts that increase upon oleic acid stimulation, consistent with a lipid-transfer/contact role.

    Evidence 3D high-resolution microscopy, oleic acid stimulation, depletion

    PMID:38090145

    Open questions at the time
    • Functional consequence of Golgi-LD contacts uncharacterized
    • Single lab, imaging-based
    • No lipid flux measured at these contacts
  7. 2025 High

    Established a direct lipid-transfer mechanism at mitochondria: VPS13B delivers PI4P-rich Golgi vesicles to fission sites via its C-terminal MFN2-binding region, and this lipid transfer is required for membrane scission downstream of DRP1, linking VPS13B to mitochondrial quality control.

    Evidence Live imaging, fractionation, PI4P depletion epistasis, DRP1 recruitment assay, patient iPSC neurons, membrane potential/mitophagy assays

    PMID:41402289

    Open questions at the time
    • Direct demonstration of VPS13B lipid-channel transfer activity in vitro not shown
    • How Golgi and mitochondrial pools are partitioned unknown
  8. 2020 Medium

    Connected VPS13B loss to autophagy dysregulation, showing increased autophagic flux and accumulation of autophagic vacuoles in KO cells and patient neurons.

    Evidence CRISPR KO, autophagic flux assays, iPSC-derived neurons, RNA-seq

    PMID:32375900

    Open questions at the time
    • Whether autophagy change is primary or secondary to organelle defects unknown
    • Direct VPS13B role in autophagosome biology not established
  9. 2020 Medium

    Provided functional validation of a disease pathomechanism by showing the p.Arg237Pro missense variant fails to localize to the Golgi.

    Evidence Immunofluorescence Golgi localization of missense variant

    PMID:39723426

    Open questions at the time
    • Single variant, single assay
    • Structural basis of mislocalization not defined
  10. 2026 Medium

    Linked VPS13B to lysosomal homeostasis through TFEB, showing KO reduces acidic lysosomal compartments and blunts TFEB nuclear translocation, with recapitulation in patient neurons.

    Evidence KO HeLa, RNA-seq, qRT-PCR, LysoTracker, TFEB nuclear/cytoplasmic imaging, patient iPSC neurons

    PMID:42104376

    Open questions at the time
    • Mechanism by which VPS13B influences TFEB unknown
    • Single lab
    • Direct vs indirect effect on lysosome biogenesis unresolved
  11. 2026 Medium

    Identified a surface-receptor trafficking role: VPS13B directs CXADR to the plasma membrane, and its loss diverts CXADR to lysosomes and compromises epithelial barrier function.

    Evidence KO cells, surface localization assay, bafilomycin A1, CXADR-JAM1 chimera rescue, permeability assay

    PMID:41730960

    Open questions at the time
    • Whether CXADR trafficking defect is direct or downstream of Golgi/lysosome dysfunction unknown
    • Single lab
    • Generality across other surface cargo untested
  12. 2025 Medium

    Connected VPS13B to lysosome-dependent sphingolipid regulation, showing KO organoids have reduced C18 sphingolipids and that cationic amphiphilic drugs rescue Golgi morphology and partially restore neurite outgrowth.

    Evidence KO iPSC cortical organoids, lipidomics, Golgi morphology screen, pharmacological rescue (preprint)

    PMID:bio_10.1101_2025.09.04.674037

    Open questions at the time
    • Preprint, not yet peer-reviewed
    • Causal chain from sphingolipid loss to Golgi/neurite phenotype not fully established
  13. 2020 Medium

    Demonstrated an in-vivo requirement for VPS13B in lens homeostasis, with KO mice developing cataracts, vacuoles, EMT and fibrosis.

    Evidence Vps13b exon 3 KO mouse, histology, IHC, western blot, slit-lamp

    PMID:32915983

    Open questions at the time
    • Cellular mechanism linking VPS13B loss to lens pathology unknown
    • Single lab
  14. 2023 Medium

    Defined the neurodevelopmental consequences of VPS13B loss in mice—microcephaly, growth delay, behavioral and memory deficits, and early-life neuronal death—supporting a role in neuronal survival.

    Evidence Vps13b KO mouse, brain histomorphology, behavioral battery, apoptosis IHC

    PMID:31495077 PMID:37573958

    Open questions at the time
    • Mechanistic link from organelle defects to neuronal death not resolved
    • Sex-difference basis unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How VPS13B's multiple recruitment cues (RAB6, Sec23IP, MFN2) and its proposed bridge-like lipid transfer activity are integrated to coordinate Golgi integrity, ER export, mitochondrial fission, and lysosomal/autophagy homeostasis remains unresolved.
  • No in vitro reconstitution of VPS13B lipid transfer activity
  • No structural model of full-length VPS13B at a membrane contact
  • Hierarchy/coordination among RAB6, Sec23IP and MFN2 recruitment undefined

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 3 GO:0005764 lysosome 2 GO:0005739 mitochondrion 1 GO:0005783 endoplasmic reticulum 1 GO:0005811 lipid droplet 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 2 R-HSA-1852241 Organelle biogenesis and maintenance 1 R-HSA-9609507 Protein localization 1 R-HSA-9612973 Autophagy 1
Partners
FAM177A1MFN2RAB6SEC23IP

Evidence

Reading pass · 15 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 protein, suggesting a role in vesicle-mediated sorting and intracellular protein transport; the gene spans 62 exons over ~864 kb on chromosome 8q22 and is widely expressed. Gene cloning, sequence analysis, homology to yeast VPS13 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 fibroblasts from Cohen syndrome patients also display disrupted Golgi organization. Immunofluorescence co-localization with GM130, RNAi knockdown, cell fractionation, patient fibroblast analysis The Journal of biological chemistry High 21865173
2014 COH1/VPS13B associates with the Golgi complex in a manner dependent on the small GTPase RAB6: RAB6A/A' knockdown prevents COH1 Golgi localization, dominant-negative RAB6_T27N increases COH1 solubilization from membranes, and co-IP confirms physical interaction preferentially with constitutively active RAB6_Q72L. COH1 depletion in primary neurons impairs neurite outgrowth. RNAi knockdown, co-immunoprecipitation, dominant-negative and constitutively active RAB6 mutants, membrane fractionation, primary neuron knockdown assay The Journal of biological chemistry High 25492866
2024 Sec23IP (a protein at ER exit sites, ERES) acts as a VPS13B adaptor that recruits VPS13B to ERES-Golgi interfaces; VPS13B interacts directly with Sec23IP via its VPS13 adaptor binding domain (VAB). Disease-associated missense mutations in the VAB domain impair this interaction. Knockout of VPS13B or Sec23IP blocks formation of tubular ERGIC and delays ER export of procollagen. Co-immunoprecipitation, direct interaction assay, disease-mutation mutagenesis of VAB domain, VPS13B/Sec23IP knockout, live-cell imaging of ERGIC, procollagen secretion assay The Journal of cell biology High 39352497
2024 VPS13B localizes at the interface between proximal and distal Golgi subcompartments (cis-trans interface); VPS13B KO cells show delayed Golgi reformation after Brefeldin A treatment. FAM177A1, a Golgi protein, is a functional partner of VPS13B—loss of FAM177A1 phenocopies VPS13B KO in the BFA-reformation assay, and in zebrafish vps13b genetically interacts with fam177a1. Super-resolution microscopy (localization), Brefeldin A washout assay in KO cells, zebrafish genetic interaction (double mutant) The Journal of cell biology High 39331042
2023 VPS13B localizes to Golgi-lipid droplet contact sites and promotes formation of these contacts upon oleic acid stimulation; depletion of VPS13B moderately reduces Golgi-lipid droplet contacts and additionally causes Golgi fragmentation. 3D high-resolution microscopy, oleic acid stimulation, VPS13B depletion Contact (Thousand Oaks) Medium 38090145
2020 VPS13B loss-of-function (CRISPR KO in HeLa cells and patient iPSC-derived neurons) leads to accumulation of autophagic vacuoles and significantly increased autophagic flux; transcriptomic analysis shows upregulation of ATG4C and dysregulation of autophagosome organization genes. CRISPR/Cas9 KO, autophagic flux assays, iPSC-derived neuron differentiation, RNA sequencing Molecular brain Medium 32375900
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 causes elongated, fused mitochondria with reduced membrane potential and impaired mitophagy; depletion of PI4P likewise blocks fission despite normal DRP1 recruitment, indicating that lipid transfer by VPS13B is required for membrane fission. Live-cell imaging, subcellular fractionation, PI4P depletion, DRP1 recruitment assay, patient iPSC-derived neuron analysis, mitochondrial membrane potential and mitophagy assays Nature communications High 41402289
2026 VPS13B KO causes aberrant lysosomal distribution, reduction in LAMP1-positive lysosomes, downregulation of lysosome-related genes (acidification and biogenesis), and loss of LysoTracker-positive acidic compartments. Mechanistically, VPS13B KO alters TFEB mRNA levels and blunts TFEB nuclear translocation upon Torin1 treatment. Patient iPSC-derived induced neurons recapitulate loss of acidic lysosomal compartments. VPS13B KO HeLa cells, bulk RNA sequencing, qRT-PCR, LysoTracker assay, TFEB nuclear/cytoplasmic ratio imaging, patient iPSC-derived neuron differentiation Molecular brain Medium 42104376
2026 Loss of VPS13B in human gingival epithelial cells causes decreased cell-surface localization of CXADR (coxsackievirus and adenovirus receptor) with accumulation in lysosomes (shown by bafilomycin A1 treatment), resulting in increased epithelial permeability to LPS and PGN; rescue by CXADR-JAM1c-term chimera restores barrier function, indicating VPS13B regulates intracellular trafficking of CXADR to the plasma membrane. VPS13B KO cells, surface biotinylation/localization assay, bafilomycin A1 lysosomal block, CXADR-JAM1 chimera rescue, epithelial permeability assay Scientific reports Medium 41730960
2020 A VPS13B missense variant (p.Arg237Pro) shows diminished localization at the Golgi complex compared to wild-type, supporting loss of Golgi-targeting as a pathomechanism for missense mutations. Functional characterization of missense variant by immunofluorescence Golgi localization assay Frontiers in neuroscience Medium 39723426
2025 VPS13B KO in human pluripotent stem cell-derived cortical organoids results in reduced C18-N-acyl sphingolipids; treatment with cationic amphiphilic drugs (CADs) that cause lipid accumulation in acidic organelles restores Golgi morphology and sphingolipid levels, and partially rescues neurite outgrowth in CS organoids, linking VPS13B to lysosome-dependent sphingolipid regulation. VPS13B KO iPSC-derived cortical organoids, lipidomics, high-throughput microscopy-based Golgi morphology screen, pharmacological rescue (azelastine, raloxifene) bioRxivpreprint Medium bio_10.1101_2025.09.04.674037
2020 In a Vps13b exon 3 knockout mouse, cataracts develop with large vacuoles in the cortical lens area, epithelial-mesenchymal transition, and fibrosis, demonstrating that VPS13B is required for lens homeostasis. Vps13b knockout mouse (Vps13b∆Ex3/∆Ex3), histology, immunohistochemistry, western blot, slit-lamp examination Investigative ophthalmology & visual science Medium 32915983
2023 Vps13b knockout mice show microcephaly, growth delay, hypotonia, impaired spatial memory, and enhanced sociability; neuroanatomical analysis reveals dentate gyrus size reduction and thinning of motor cortex layer VI; increased neuronal death occurs in infantile stages without progression in adulthood, suggesting VPS13B promotes neuronal survival early in life. Females are less severely affected than males. Vps13b KO mouse, 2D/3D brain histomorphology, behavioral tests (Morris water maze, open field, rotarod), immunohistochemistry for apoptosis markers Neurobiology of disease Medium 37573958
2019 Vps13b exon 2 deletion mutant mice show motor deficits (reduced open-field activity, shorter rotarod latency) and deficits in spatial learning (Morris water maze), recapitulating intellectual disability and hypotonia features of Cohen syndrome. Vps13b exon 2 deletion mouse, open field test, rotarod, Morris water maze, anxiety and social behavior tests Experimental neurobiology Medium 31495077

Source papers

Stage 0 corpus · 67 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 273 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
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
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
2004 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American journal of human genetics 63 15154116
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
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
2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human mutation 43 19006247
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
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
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
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
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
2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC medical genetics 21 26104215
2017 First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. BMC medical genetics 18 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
2024 Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation. The Journal of cell biology 14 39352497
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
2019 Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Acta ophthalmologica 13 31580008
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 A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. American journal of medical genetics. Part A 12 31825161
2024 VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1. The Journal of cell biology 11 39331042
2023 A Possible Role of VPS13B in the Formation of Golgi-Lipid Droplet Contacts Associating with the ER. Contact (Thousand Oaks (Ventura County, Calif.)) 11 38090145
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
2019 Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. Journal of molecular neuroscience : MN 10 31444703
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
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
2021 A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. Ophthalmic genetics 5 34425733
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 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 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 3 38771357
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
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
2026 Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report. Acta diabetologica 0 41591480
2026 VPS13B maintains lysosomal homeostasis through regulation of TFEB. Molecular brain 0 42104376
2025 [Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 0 40583715
2025 Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa. BMC ophthalmology 0 40813981
2025 Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene. Molecular cytogenetics 0 41257743
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
2025 [Analysis of variants of VPS13B gene in a child with Cohen syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 41645382
2023 [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 37532496
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

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