ArticleAmerican journal of medical genetics. Part A2023
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Human TBC1 domain-containing kinase is a class I multidomain pseudokinase.Protein expression and purification · 2027Article
- A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.bioRxiv : the preprint server for biology · 2026Article
- TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.bioRxiv : the preprint server for biology · 2025Article
- Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?Biology open · 2025Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
TBCK-related encephalopathy is a rare pediatric neurodegenerative disorder caused by biallelic loss-of-function variants in the TBCK gene. After receiving anecdotal reports of neurologic phenotypes in both human and mouse TBCK heterozygotes, we quantified if TBCK haploinsufficiency causes a phenotype in mice and humans. Using the tbck
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