Preclinical Evaluation of a Modified Herpes Simplex Virus Type 1 Vector Encoding Human TGM1 for the Treatment of Autosomal Recessive Congenital Ichthyosis

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

Masato Matsuki, Fumiyoshi Yamashita, Akemi Ishida‐Yamamoto et al. · Proceedings of the National Academy of Sciences · 1998 · 292 citations

Life Sciences, Biochemistry, Genetics +14

Corrective gene transfer in the human skin disorder lamellar ichthyosis

Keith Choate, Dan A. Medalie, Jeffrey R. Morgan et al. · Nature Medicine · 1996 · 166 citations

Life Sciences, Genetics, Molecular Genetics +12

Expression of Epidermal Keratins and the Cornified Envelope Protein Involucrin is Influenced by Permeability Barrier Disruption

Swarna Ekanayake‐Mudiyanselage, Jens‐Michael Jensen, Ehrhardt Proksch et al. · Journal of Investigative Dermatology · 1998 · 123 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +12

Novel <i>transglutaminase-1</i> mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

S. Morteza Farasat, M-H Wei, Matthew L. Herman et al. · Journal of Medical Genetics · 2008 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Karin Aufenvenne, Fernando Larcher, Blanca Duarte et al. · The American Journal of Human Genetics · 2013 · 69 citations · Full text

Medicine, Dermatology, Molecular Medicine +10