ArticleAmerican journal of human genetics2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
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 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.Cerebellum (London, England) · 2024Pooled it
- Pontocerebellar Hypoplasia Type 11 Case with a Novel Variant of TBC1D23 Gene: Case Report and Literature Review.Cerebellum (London, England) · 2026Review
- TBC1D23 drives lymphatic metastasis in pancreatic ductal adenocarcinoma by altering EGFR cell surface dynamics and signaling.Cellular oncology (Dordrecht, Netherlands) · 2026Article
- 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
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- The FAM114A proteins are adaptors for the recycling of Golgi enzymes.Journal of cell science · 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
- Presynaptic Precursor Vesicles-Cargo, Biogenesis, and Kinesin-Based Transport across Species.Cells · 2023Review
- Advanced Optical Microscopy: Unveiling Functional Insights Regarding a NovelInternational journal of molecular sciences · 2023Article
- The GARP complex prevents sterol accumulation at the trans-Golgi network during dendrite remodeling.The Journal of cell biology · 2023Article
- In vivo characterization of Drosophila golgins reveals redundancy and plasticity of vesicle capture at the Golgi apparatus.Current biology : CB · 2022Article
- Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.American journal of human genetics · 2022Article
- Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.BMC neurology · 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
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18 authors.
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Abstract
Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a non-degenerative form of PCH. In addition to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia. In zebrafish, tbc1d23 morphants replicated the human phenotype showing hindbrain volume loss. TBC1D23 localized at the trans-Golgi and was regulated by the small GTPases Arl1 and Arl8, suggesting a role in trans-Golgi membrane trafficking. Altogether, this study provides a causative link between TBC1D23 mutations and PCH and suggests a less severe clinical course than other PCH subtypes.
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