Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

    October 2007 in “ Journal of Biological Chemistry ”
    Karin List, Brooke M. Currie, Tiffany C. Scharschmidt … Thomas Bugge
    Studysummary This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
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    Research cited in this study 6

    1. Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis American Journal Of Pathology · 2006
    2. Matriptase: Potent Proteolysis on the Cell Surface Molecular Medicine · 2006
    3. Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity Nature Genetics · 2004
    4. Hair Follicle Differentiation And Regulation The International Journal of Developmental Biology · 2004
    5. Epidermal Differentiation: The Role of Proteases and Their Inhibitors European Journal of Cell Biology · 2004
    6. Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis Oncogene · 2002

    Related research 5

    1. A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome Orphanet Journal of Rare Diseases · 2017
    2. Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities Archives of dermatological research · 2017
    3. Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008
    4. Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype Clinical Genetics · 2008
    5. Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007