ArticleJournal of molecular modeling2007
A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.
Article in Journal of molecular modeling, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 33 citations in OpenAlex.
- Transglutaminase 1: Emerging Functions beyond Skin.International journal of molecular sciences · 2024Review
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- A pan-cancer analysis of the oncogenic and immunological roles of transglutaminase 1 (TGM1) in human cancer.Journal of cancer research and clinical oncology · 2024Article
- Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft.JAAD case reports · 2018Article
- Biocatalysis by Transglutaminases: A Review of Biotechnological Applications.Micromachines · 2018Review
- Loss of NHE8 expression impairs ocular surface function in mice.American journal of physiology. Cell physiology · 2015Article
- Transglutaminase 6: a protein associated with central nervous system development and motor function.Amino acids · 2013Article
- Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2013Article
- Regulation of the activities of the mammalian transglutaminase family of enzymes.Protein science : a publication of the Protein Society · 2012Review
- Transglutaminase activation in neurodegenerative diseases.Future neurology · 2009Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Journal of medical genetics · 2009Article
- Framework for a protein ontology.BMC bioinformatics · 2007Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
The stratum corneum, the outer layer of the epidermis, serves as a protective barrier to isolate the skin from the external environment. Keratinocyte transglutaminase 1 (TGase 1) catalyzes amide crosslinking between glutamine and lysine residues on precursor proteins forming the impermeable layers of the epidermal cell envelopes (CE), the highly insoluble membranous structures of the stratum corneum. Patients with the autosomal recessive skin disorder lamellar ichthyosis (LI) appear to have deficient cross-linking of the cell envelope due to mutations identified in TGase 1, linking this enzyme to LI. In the absence of a crystal structure, molecular modeling was used to generate the structure of TGase 1. We have mapped the known mutations of TGase 1 from our survey obtained from a search of PubMed and successfully predicted the impact of these mutations on LI. Furthermore, we have identified Ca(2+) binding sites and propose that Ca(2+) induces a cis to trans isomerization in residues near the active site as part of the enzyme transamidation activation. Docking experiments suggest that substrate binding subsequently induces the reverse cis to trans isomerization, which may be a significant part of the catalytic process. These results give an interpretation at the molecular level of previously reported mutations and lead to further insights into the structural model of TGase 1, providing a new basis for understanding LI.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.