ArticleThe Journal of biological chemistry2008
Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease.
Article in The Journal of biological chemistry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
- Matriptase-dependent epidermal pre-neoplasm in zebrafish embryos caused by a combination of hypotonic stress and epithelial polarity defects.PLoS genetics · 2023Article
- Differential subcellular distribution renders HAI-2 a less effective protease inhibitor than HAI-1 in the control of extracellular matriptase proteolytic activity.Genes & diseases · 2022Article
- Article
- Review
- Matriptase processing of APLP1 ectodomain alters its homodimerization.Scientific reports · 2020Article
- Matriptase Cleaves EpCAM and TROP2 in Keratinocytes, Destabilizing Both Proteins and Associated Claudins.Cells · 2020Article
- Cell surface-anchored serine proteases in cancer progression and metastasis.Cancer metastasis reviews · 2019Review
- Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities.Journal of cellular and molecular medicine · 2018Article
- The type II transmembrane serine protease matriptase cleaves the amyloid precursor protein and reduces its processing to β-amyloid peptide.The Journal of biological chemistry · 2017Article
- The Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss.Scientific reports · 2017Article
- Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes.The Journal of investigative dermatology · 2014Article
- Matriptase autoactivation is tightly regulated by the cellular chemical environments.PloS one · 2014Article
- Prostasin is required for matriptase activation in intestinal epithelial cells to regulate closure of the paracellular pathway.The Journal of biological chemistry · 2013Article
- Roles of CUB and LDL receptor class A domain repeats of a transmembrane serine protease matriptase in its zymogen activation.Journal of biochemistry · 2013Article
- Design and synthesis of potent, selective inhibitors of matriptase.ACS medicinal chemistry letters · 2012Article
- Activity and inhibition of prostasin and matriptase on apical and basolateral surfaces of human airway epithelial cells.American journal of physiology. Lung cellular and molecular physiology · 2012Article
- Matriptase protects against experimental colitis and promotes intestinal barrier recovery.Inflammatory bowel diseases · 2012Article
- Cleavage of hepatocyte growth factor activator inhibitor-1 by membrane-type MMP-1 activates matriptase.Cancer science · 2012Article
- Membrane-anchored serine proteases in health and disease.Progress in molecular biology and translational science · 2011Review
- Proteolysis-induced N-terminal ectodomain shedding of the integral membrane glycoprotein CUB domain-containing protein 1 (CDCP1) is accompanied by tyrosine phosphorylation of its C-terminal domain and recruitment of Src and PKCdelta.The Journal of biological chemistry · 2010Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Matriptase is a member of the novel family of type II transmembrane serine proteases. It was recently shown that a rare genetic disorder, autosomal recessive ichthyosis with hypotrichosis, is caused by a mutation in the coding region of matriptase. However, the biochemical and functional consequences of the G827R mutation in the catalytic domain of the enzyme have not been reported. Here we expressed the G827R-matriptase mutant in bacterial cells and found that it did not undergo autocatalytic cleavage from its zymogen to its active form as did the wild-type matriptase. Enzymatic activity measurements showed that the G827R mutant was catalytically inactive. When expressed in HEK293 cells, G827R-matriptase remained inactive but was shed as a soluble form, suggesting that another protease cleaved the full-length mature form of matriptase. Molecular modeling based on the crystal structure of matriptase showed that replacing Gly(827) by Arg blocks access to the binding/catalytic cleft of the enzyme thereby preventing autocatalysis of the zymogen form. Our study, thus, provides direct evidence that the G827R mutation in patients with autosomal recessive ichthyosis with hypotrichosis leads to the expression of an inactive protease.
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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.