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Cited by 18Cellular transport and secretionLipid metabolism and biosynthesisLipid Membrane Structure and Behavior

VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1

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Ugur, Berrak, Schueder, Florian, Shin, Jimann, Hanna, Michael G., Wu, Yumei, Leonzino, Marianna, Su, Maohan, McAdow, Anthony R. +5 more·2024·Journal of Cell Biology
DOI 10.1083/jcb.202311189PMC PMC11451052

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Abstract

Mutations in VPS13B, a member of a protein family implicated in bulk lipid transport between adjacent membranes, cause Cohen syndrome. VPS13B is known to be concentrated in the Golgi complex, but its precise location within this organelle and thus the site(s) where it achieves lipid transport remains unclear. Here, we show that VPS13B is localized at the interface between proximal and distal Golgi subcompartments and that Golgi complex reformation after Brefeldin A (BFA)–induced disruption is delayed in VPS13B KO cells. This delay is phenocopied by the loss of FAM177A1, a Golgi complex protein of unknown function reported to be a VPS13B interactor and whose mutations also result in a developmental disorder. In zebrafish, the vps13b ortholog, not previously annotated in this organism, genetically interacts with fam177a1. Collectively, these findings raise the possibility that bulk lipid transport by VPS13B may play a role in the dynamics of Golgi membranes and that VPS13B may be assisted in this function by FAM177A1.

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  • Mutations in VPS13B can lead to developmental and degenerative changes in the nervous system and tissues such as the retina, representing a typical mechanism of multisystem syndromic ASD.

    “Mutations in VPS13B can lead to developmental and degenerative changes in the nervous system and tissues such as the retina, representing a typical mechanism of multisystem syndromic ASD (Ugur et al., 2024).”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Ugur et al., 2024

    The Introduction links VPS13B mutations to Cohen syndrome, and the Concluding remarks state that loss of VPS13B in humans causes a developmental disorder with neurological defects. The paper does not describe degenerative changes in the nervous system or establish VPS13B loss as a typical mechanism of multisystem syndromic ASD. Retinopathy appears in a reference title, but the paper does not make the claimed connection to retinal degeneration. (LLM, conf=0.86)

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Authors
Ugur, B., Schueder, F., Shin, J., Hanna, M. G., Wu, Y., Leonzino, M., Su, M., McAdow, A. R., Wilson, C., Postlethwait, J., Solnica-Krezel, L., Bewersdorf, J., & De Camilli, P.
Affiliations
  • Yale University School of Medicine 1 Department of Cell Biology, , New Haven, CT,
  • Yale University (US)
  • Washington University in St. Louis (US)
  • Howard Hughes Medical Institute (US)
  • University of Oregon (US)
  • Washington University School of Medicine 7 Department of Developmental Biology, , St. Louis, MO,
ORCID
Venue
Journal of Cell Biology
Publisher
Rockefeller University Press
Published
2024-09-27
Volume
223
Issue
12
ISSN
  • 0021-9525 (ISSN-L)
  • 1540-8140
DOI
10.1083/jcb.202311189
PMC
PMC11451052
OpenAlex
W4402922562
Cited by
18
References
4
Citations by year
2026: 8 · 2025: 6 · 2024: 4
FWCI
4.03
Type
journal article
Language
en
Open access
Licence
Locations
  • The Journal of Cell Biology (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • PubMed Central (submittedVersion, cc-by)
  • Digital Commons@Becker (Washington University School of Medicine) (submittedVersion, cc-by)
  • Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion)
Funders
  • National Institutes of Health (R01NS36251, R01OD011116, R01GM151829, R01HD110556, DA018343)
  • Kavli Institute for Neuroscience
  • Michael J. Fox Foundation for Parkinson's Research (ASAP-000580)
  • William N. and Bernice E. Bumpus Foundation
  • Human Frontier Science Program (LT000056/2020-C)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Lipid Membrane Structure and Behavior
Keywords
VPS13B, Golgi apparatus, Cohen syndrome, Golgi cisternae, brefeldin A, zebrafish, protein-protein interaction, developmental disorders

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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