{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Diaz-Rosado A"],"funding":["NINDS NIH HHS"],"pubmed_abstract":["TBC1 domain-containing kinase (TBCK) is an important protein with implications in brain development. Biallelic variants in the <i>TBCK</i> gene are known to cause TBCK-related neurodevelopmental disorder (OMIM #616900) [1], a rare genetic multisystemic disease characterized by developmental delay, variable developmental regression, seizures, and premature death in late childhood for which no cure is currently available. Though previous work has provided a better understanding of the protein's role, the mechanism for how <i>TBCK</i> variants affect gene expression and protein regulation has remained understudied. To better understand the impact of these alterations, and using an unbiased approach, we employed the power of multi-omics to define the cellular consequences at the transcript and"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2025.09.23.677540"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12486131"],"repository":["biostudies-literature"],"pubmed_title":["TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses."],"pmcid":["PMC12486131"],"funding_grant_id":["K08 NS109281"],"pubmed_authors":["Sangree A","Clark K","Lubin EE","Katsura KA","Gilbert M","Durham EL","Bhoj E","Melendez A","Gonzalez E","Diaz-Rosado A","Layo-Carris D","Vrettos N","Angireddy R","Oppelt J"],"additional_accession":[]},"is_claimable":false,"name":"TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.","description":"TBC1 domain-containing kinase (TBCK) is an important protein with implications in brain development. Biallelic variants in the <i>TBCK</i> gene are known to cause TBCK-related neurodevelopmental disorder (OMIM #616900) [1], a rare genetic multisystemic disease characterized by developmental delay, variable developmental regression, seizures, and premature death in late childhood for which no cure is currently available. Though previous work has provided a better understanding of the protein's role, the mechanism for how <i>TBCK</i> variants affect gene expression and protein regulation has remained understudied. To better understand the impact of these alterations, and using an unbiased approach, we employed the power of multi-omics to define the cellular consequences at the transcript and","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-29T03:22:40.097Z","creation":"2026-06-29T03:19:49.49Z"},"accession":"S-EPMC12486131","cross_references":{"pubmed":["41040160"],"doi":["10.1101/2025.09.23.677540"]}}