Article

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome

2026-05-11

Abstract excerpt

TBCK Syndrome is a rare Mendelian disorder caused by variants in the TBCK gene. Although symptoms affect multiple organ systems, hallmark features include intellectual and developmental disability, craniofacial differences, hypotonia, and premature death. At the cellular level, TBCK has been implicated in mTOR signaling, autophagy, mitophagy, and mRNA trafficking; however, the mechanisms underlying disease onset...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 336f4086-2d12-512d-b199-ca81e734a42f
DOI: 10.64898/2026.05.07.723566

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel mouse model of rare neurodevelopmental disorder, TBCK SyndromeDOI 10.64898/2026.05.07.723566Read

TBCK syndrome: a rare multi-organ neurodegenerative disease.Semantic proximity Read

Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.Semantic proximity Read

TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics AnalysesSemantic proximity Read

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neuronsSemantic proximity Read

CTNNB1 syndrome mouse models.Semantic proximity Read

Knockout mouse models as a resource for the study of rare diseases.Semantic proximity Read

Knockout mouse models as a resource for rare diseases studiesSemantic proximity Read

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.Semantic proximity Read

Lipid transport is necessary for neocortical laminationSemantic proximity Read

High-throughput discovery of novel developmental phenotypes.Semantic proximity Read

Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development.Semantic proximity Read

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos.Semantic proximity Read