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TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.

Abdias Diaz-Rosado1,2, Kelly Clark1,2, Rajesh Angireddy1

  • 1Center for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.

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|October 3, 2025
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Summary
This summary is machine-generated.

TBCK protein dysfunction, caused by gene variants, disrupts cellular processes like translation and splicing, impacting brain development. This study reveals molecular changes offering potential therapeutic targets for TBCK-related neurodevelopmental disorder.

Keywords:
TBCK SyndromeisoformsmiRNAsmulti-omicsproteomicsribosomessplicingtranscriptomics

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • TBC1 domain-containing kinase (TBCK) is crucial for brain development.
  • Biallelic TBCK gene variants cause TBCK-related neurodevelopmental disorder, a severe genetic condition.
  • Mechanisms linking TBCK variants to gene expression and protein regulation are not fully understood.

Purpose of the Study:

  • To elucidate the cellular consequences of TBCK dysfunction at transcript and protein levels.
  • To investigate the molecular mechanisms underlying TBCK-related neurodevelopmental disorder.
  • To identify potential therapeutic targets for TBCK-related neurodevelopmental disorder.

Main Methods:

  • Employed a multi-omics approach (transcriptomics and proteomics).
  • Analyzed TBCK-/- cells to define cellular alterations.
  • Validated previously reported molecular findings.

Main Results:

  • Uncovered significant disruptions in ribosomal and translation pathways.
  • Identified widespread alternative splicing defects.
  • Confirmed key microRNA (miRNA) changes.

Conclusions:

  • Established a clearer molecular framework for TBCK dysfunction.
  • Demonstrated widespread molecular alterations in TBCK-/- cells.
  • Provided a foundation for developing therapeutic strategies for TBCK-related neurodevelopmental disorder.