ArticleProceedings of the National Academy of Sciences of the United States of America2019
Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 31 citations in OpenAlex.
- Pontocerebellar Hypoplasia Type 11 Case with a Novel Variant of TBC1D23 Gene: Case Report and Literature Review.Cerebellum (London, England) · 2026Review
- TBC1 domain family member 23 is essential for STING-mediated anti-melanoma effect.Molecular biomedicine · 2026Article
- Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.Human genomics · 2025Article
- Trans-Golgi network tethering factors regulate TBK1 trafficking and promote the STING-IFN-I pathway.Cell discovery · 2025Article
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- Structural basis for coupling of the WASH subunit FAM21 with the endosomal SNX27-Retromer complex.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Cargo selective vesicle tethering: The structural basis for binding of specific cargo proteins by the Golgi tether component TBC1D23.Science advances · 2024Article
- TBC1D23 mediates Golgi-specific LKB1 signaling.Nature communications · 2024Article
- FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Out of the ESCPE room: Emerging roles of endosomal SNX-BARs in receptor transport and host-pathogen interaction.Traffic (Copenhagen, Denmark) · 2023Review
- ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.Molecular psychiatry · 2023Article
- SCGN deficiency is a risk factor for autism spectrum disorder.Signal transduction and targeted therapy · 2023Article
- Mild cold stress specifically disturbs clustering movement of DFCs and sequential organ left-right patterning in zebrafish.Frontiers in cell and developmental biology · 2022Article
- TBC1 domain family member 23 interacts with Ras-related protein Rab-11A to promote poor prognosis of non-small-cell lung cancer via β1-integrin.Journal of cellular and molecular medicine · 2021Article
- Model-based analysis uncovers mutations altering autophagy selectivity in human cancer.Nature communications · 2021Article
- GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.Molecular biomedicine · 2021Article
- Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.Nature structural & molecular biology · 2021Article
- Phosphorylation of SNX27 by MAPK11/14 links cellular stress-signaling pathways with endocytic recycling.The Journal of cell biology · 2021Article
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 3 countries.
Funding
Abstract
Pontocerebellar hypoplasia (PCH) is a group of neurological disorders that affect the development of the brain, in particular, the pons and cerebellum. Homozygous mutations of TBC1D23 have been found recently to lead to PCH; however, the underlying molecular mechanisms remain unclear. Here, we show that the crystal structure of the TBC1D23 C-terminal domain adopts a Pleckstrin homology domain fold and selectively binds to phosphoinositides, in particular, PtdIns(4)P, through one surface while binding FAM21 via the opposite surface. Mutation of key residues of TBC1D23 or FAM21 selectively disrupts the endosomal vesicular trafficking toward the Trans-Golgi Network. Finally, using the zebrafish model, we show that PCH patient-derived mutants, impacting either phosphoinositide binding or FAM21 binding, lead to abnormal neuronal growth and brain development. Taken together, our data provide a molecular basis for the interaction between TBC1D23 and FAM21, and suggest a plausible role for PtdIns(4)P in the TBC1D23-mediating endosome-to-TGN trafficking pathway. Defects in this trafficking pathway are, at least partially, responsible for the pathogenesis of certain types of PCH.
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