Article

Loss of Tsc2 in Neonatal V-SVZ Neural Stem Cells Causes Rare Malformations Tsc2 Mutation Causes Rare Malformations

2025-12-17

Abstract excerpt

Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations that inactivate TSC1 or TSC2 genes. TSC1 or TSC2 mutations activate the mammalian target of rapamycin complex 1 (mTORC1) protein kinase pathway. Although many patients inherit a single copy of a mutant TSC gene, somatic mutations that cause loss of heterozygosity in inhibitory neural progenitor cells are hypothesized to be one cause of abno...

Topics

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

Identifiers and source

Literature Corpus work: 1f89b175-e613-5b68-ab73-cc84ee9456ad
DOI: 10.20944/preprints202512.1498.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of Tsc2 in Neonatal V-SVZ Neural Stem Cells Causes Rare Malformations Tsc2 Mutation Causes Rare MalformationsDOI 10.20944/preprints202512.1498.v1Read

Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions.Semantic proximity Read

Complex Neurological Phenotype in Mutant Mice Lacking Tsc2 in Excitatory Neurons of the Developing Forebrain(123).Semantic proximity Read

Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants.Semantic proximity Read

A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited SurvivalSemantic proximity Read

A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model.Semantic proximity Read

TSC-mTORC1 Pathway in Postnatal V-SVZ NeurodevelopmentSemantic proximity Read

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)Semantic proximity Read

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficitsSemantic proximity Read

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in miceSemantic proximity Read

Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse modelsSemantic proximity Read

Conditional and domain-specific inactivation of the Tsc2 gene in neural progenitor cells.Semantic proximity Read

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities.Semantic proximity Read