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Article

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

The Journal of clinical investigation - 15 Apr 2026

Zhang Zeqiao, Huang Shimiao, Jackson Adam, Jones Elizabeth A, Banka Siddharth, Yang Chao, Zhao Sisi, Lv Kunlun, Peng Sha, Lin Zhimiao, Wang Huijun

Abstract excerpt

Ceramides are essential skin lipids for maintaining the mammalian skin permeability barrier, which protects against external stimuli. The precursor of epidermal ceramides, glucosylceramides (GlcCer), is synthesized within granular keratinocytes while its precise cellular transport mechanisms remain poorly characterized. Here, we identified 3 pathogenic variants in the GLTP gene, which encodes glycolipid transfer...

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Source

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Identifiers

PMID: 41642656
DOI: 10.1172/JCI198835
PMCID: PMC13078884

Genes

GLTP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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