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Article

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis.

Neurobiology of disease - 1 Dec 2017

Scheldeman Chloë, Mills James D, Siekierska Aleksandra, Serra Ines, Copmans Daniëlle, Iyer Anand M, Whalley Benjamin J, Maes Jan, Jansen Anna C, Lagae Lieven, Aronica Eleonora, de Witte Peter A M

Abstract excerpt

Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC-associated neuropsychiatric disorders. Given the lack of effective long-term treatments for TSC, there is a need to gain greater insight into TSC-related pathophysiology...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28888969
DOI: 10.1016/j.nbd.2017.09.004

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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