ArticleThe Journal of biological chemistry2015
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.
Article in The Journal of biological chemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed.
- Article
- Landscape of copy number variants in Spanish people with dementia.NPJ genomic medicine · 2026Article
- Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.BMC neurology · 2026Article
- VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.Scientific reports · 2026Article
- VPS13B recruits lipid vesicles to promote mitochondrial fission and quality control.Nature communications · 2025Article
- Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.Journal of applied genetics · 2025Article
- Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.Molecular cytogenetics · 2025Article
- VPS13 and bridge-like lipid transporters, mechanisms, and mysteries.Frontiers in neuroscience · 2025Review
- VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1.The Journal of cell biology · 2024Article
- Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.The Journal of cell biology · 2024Article
- Single-cell transcriptomics unveils molecular signatures of neuronal vulnerability in a mouse model of prion disease that overlap with Alzheimer's disease.Nature communications · 2024Article
- A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.Journal of clinical immunology · 2024Article
- Article
- Impact of genetic test interpretation on aFrontiers in neuroscience · 2024Article
- Exploring the pathological mechanisms underlying Cohen syndrome.Frontiers in neuroscience · 2024Review
- VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1.bioRxiv : the preprint server for biology · 2023Article
- Article
- In silico modeling human VPS13 proteins associated with donor and target membranes suggests lipid transfer mechanisms.Proteins · 2023Article
- Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder.Translational psychiatry · 2022Article
- Review
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8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene COH1 (VPS13B). We have recently identified COH1 as a Golgi-enriched scaffold protein that contributes to the structural maintenance and function of the Golgi complex. Here, we show that association of COH1 with the Golgi complex depends on the small GTPase RAB6. RNAi-mediated knockdown of RAB6A/A' prevents the localization of COH1 to the Golgi complex. Expression of the constitutively inactive RAB6_T27N mutant led to an increased solubilization of COH1 from lipid membrane preparations. Co-IP experiments confirmed the physical interaction of COH1 with RAB6 that preferentially occurred with the constitutively active RAB6_Q72L mutants. Depletion of COH1 in primary neurons negatively interfered with neurite outgrowth, indicating a causal link between the integrity of the Golgi complex and axonal outgrowth. We conclude that COH1 is a RAB6 effector protein and that reduced brain size in Cohen syndrome patients likely results from impaired COH1 function at the Golgi complex, causing decreased neuritogenesis.
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