ReviewOncology letters2021
Multiple functions of TBCK protein in neurodevelopment disorders and tumors.
Review in Oncology letters, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 28 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
- A Novel Human TBCK- Neuronal Cell Model Results in Severe Neurodegeneration and Partial Rescue with Mitochondrial Fission Inhibition.bioRxiv : the preprint server for biology · 2024Article
- Suppression of TBCK enhances TRAIL-mediated apoptosis by causing the inactivation of the akt signaling pathway in human renal carcinoma Caki-1 cells.Genes & genomics · 2023Article
- Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.American journal of medical genetics. Part A · 2023Article
- TBCK syndrome: a rare multi-organ neurodegenerative disease.Trends in molecular medicine · 2023Article
- Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish.Cellular and molecular life sciences : CMLS · 2022Article
- Whole-genome sequencing of extrachromosomal circular DNA of cerebrospinal fluid of medulloblastoma.Frontiers in oncology · 2022Article
- Dysregulation of LINC00470 and METTL3 promotes chemoresistance and suppresses autophagy of chronic myelocytic leukaemia cells.Journal of cellular and molecular medicine · 2021Article
- Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.Frontiers in cellular neuroscience · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
TBC1 domain containing kinase (TBCK) protein is composed of three conserved domains, including N-terminal Serine/Threonine kinase domain, central TBC domain and C-terminal rhodanese homology domain (RHOD). A total of 9 different transcripts (classified as long and short TBCK) generated by alternative splicing have been reported in different cell lines. Exogenous expression of long TBCK has been identified to function as a suppressor of cell growth in certain cell types. On the contrary, TBCK has also been reported to serve a tumor-promoting role in other cell lines, indicating that TBCK might function differentially, depending on the context in different cellular environments. Furthermore, deleterious homozygous or compound heterozygous mutations identified by whole-exome sequencing in the TBCK gene could ablate the function of TBCK, further impacting the mTOR signaling pathway and leading to neurogenetic disorders, such as hypotonia, global developmental delay, facial dysmorphic features and brain abnormalities. However, as a poorly explored protein, there are a lot of studies associated with the functions of TBCK that need to be performed in the future. The present review summarizes data regarding the structural features and potential roles of TBCK in developmental and neurological diseases and tumorigenesis. Future prospects of TBCK research lie in revealing numerous biological functions of TBCK.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.