ArticleAmerican journal of human genetics2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 52 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
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 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
- Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.BMC medical genomics · 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
- The GARP complex prevents sterol accumulation at the trans-Golgi network during dendrite remodeling.The Journal of cell biology · 2023Article
- 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
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.Frontiers in cellular neuroscience · 2021Article
- Novel Host Protein TBC1D16, a GTPase Activating Protein of Rab5C, Inhibits Prototype Foamy Virus Replication.Frontiers in immunology · 2021Article
- Deficiency of the Tbc1d21 gene causes male infertility with morphological abnormalities of the sperm mitochondria and flagellum in mice.PLoS genetics · 2020Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Structure of TBC1D23 N-terminus reveals a novel role for rhodanese domain.PLoS biology · 2020Article
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
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Authors and funding
25 authors at 13 institutions in 7 countries.
Funding
Abstract
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum. Mutations in a small number of genes have been reported to cause PCH, and the vast majority of PCH cases are explained by mutations in TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex. Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly. MRI data from available affected subjects revealed PCH, small normally proportioned cerebellum, and corpus callosum anomalies. Furthermore, through in utero electroporation, we show that downregulation of TBC1D23 affects cortical neuron positioning. TBC1D23 is a member of the Tre2-Bub2-Cdc16 (TBC) domain-containing RAB-specific GTPase-activating proteins (TBC/RABGAPs). Members of this protein family negatively regulate RAB proteins and modulate the signaling between RABs and other small GTPases, some of which have a crucial role in the trafficking of intracellular vesicles and are involved in neurological disorders. Here, we demonstrate that dense core vesicles and lysosomal trafficking dynamics are affected in fibroblasts harboring TBC1D23 mutation. We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia.
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