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Article

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

American journal of human genetics - 3 Oct 2013

Aufenvenne Karin, Larcher Fernando, Hausser Ingrid, Duarte Blanca, Oji Vinzenz, Nikolenko Heike, Del Rio Marcela, Dathe Margitta, Traupe Heiko

Abstract excerpt

Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremendous burden, including the problem of stigmatization. Currently, no therapy targeting the...

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Source

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Identifiers

PMID: 24055110
DOI: 10.1016/j.ajhg.2013.08.003
PMCID: PMC3791258

Genes

TGM1

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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