ArticleAmerican journal of human genetics2013
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 68 citations in OpenAlex.
- Human Transglutaminases: Updated Insights into Activation Mechanisms, Allosteric Regulation and Disease.International journal of molecular sciences · 2026Review
- Genotype-Environment-Driven Dysbiosis in the Skin Microbiome of Ichthyosis.The Journal of investigative dermatology · 2026Article
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.International journal of molecular sciences · 2025Article
- Can breakthroughs in dermal and transdermal macromolecule delivery surmount existing barriers and revolutionize future therapeutics?Journal of translational medicine · 2025Review
- Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis.Archives of dermatological research · 2025Article
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- Article
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.Frontiers in pharmacology · 2023Review
- Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.American journal of clinical dermatology · 2022Review
- Semisolid Wet Sol-Gel Silica/Hydroxypropyl Methyl Cellulose Formulation for Slow Release of Serpin B3 Promotes Wound Healing In Vivo.Pharmaceutics · 2022Article
- Resolution of Eczema with Multivalent Peptides.JID innovations : skin science from molecules to population health · 2022Article
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.International journal of molecular sciences · 2022Review
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers.International journal of molecular sciences · 2021Article
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Transglutaminases: part I-origins, sources, and biotechnological characteristics.World journal of microbiology & biotechnology · 2020Review
- Functional Fragments of AIMP1-Derived Peptide (AdP) and Optimized Hydrosol for Their Topical Deposition by Box-Behnken Design.Molecules (Basel, Switzerland) · 2019Article
- Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.American journal of clinical dermatology · 2018Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 molecular cause is available, and the therapeutic situation is deplorable. In this study, we developed the basis for a causative therapy aiming at the delivery of the enzyme to the inner site of the keratinocytes' plasma membrane. We prepared sterically stabilized liposomes with encapsulated recombinant human TG1 (rhTG1) and equipped with a highly cationic lipopeptide vector to mediate cellular uptake. The liposomes overcame the problems of insufficient cutaneous delivery and membrane penetration and provided excellent availability and activity of rhTG1 in primary keratinocytes. To demonstrate the general feasibility of this therapeutic approach in a humanized context, we used a skin-humanized mouse model. Treatment with rhTG1 liposomes resulted in considerable improvement of the ichthyosis phenotype and in normalization of the regenerated ARCI skin: in situ monitoring showed a restoration of TG1 activity, and cholesterol clefts vanished ultrastructurally. Measurement of TEWL revealed a restoration of epidermal barrier function. We regard this aspect as a major advance over available nonspecific approaches making use of, for example, retinoid creams. We conclude that this topical approach is a promising strategy for restoring epidermal integrity and barrier function and provides a causal cure for individuals with TG1 deficiency.
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