biostudies-literatureUnknownDiaz-Rosado ANINDS NIH HHSTBC1 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 andbioRxiv : the preprint server for biology2025.09.23.677540https://www.ebi.ac.uk/biostudies/studies/S-EPMC12486131biostudies-literatureTBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.PMC12486131K08 NS109281Sangree AClark KLubin EEKatsura KAGilbert MDurham ELBhoj EMelendez AGonzalez EDiaz-Rosado ALayo-Carris DVrettos NAngireddy ROppelt JfalseTBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.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 and2025-01-01T00:00:00Z2025 Sep2026-06-29T03:22:40.097Z2026-06-29T03:19:49.49ZS-EPMC124861314104016010.1101/2025.09.23.677540