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Article

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

The Journal of clinical investigation - 3 Jan 2017

Cao Juxiang, Tyburczy Magdalena E, Moss Joel, Darling Thomas N, Widlund Hans R, Kwiatkowski David J

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the TSC protein complex is an essential regulator of mTOR complex 1 (mTORC1). Patients with TSC develop hypomelanotic macules (white spots), but the molecular mechanisms underlying their formation are not fully characterized. Using human primary melanocytes and a...

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Share to Glycogen Synthase Kinase 3 beta
Share to Mechanistic Target of Rapamycin Complex 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Melanins

Share to Microphthalmia-Associated Transcription Factor

Share to Skin Pigmentation

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 27918305
DOI: 10.1172/JCI84262
PMCID: PMC5199706

Genes

TSC2
MITF
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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