Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
نویسندگان
چکیده
منابع مشابه
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
BACKGROUND Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the developme...
متن کاملMatriptase shedding is closely coupled with matriptase zymogen activation and requires de novo proteolytic cleavage likely involving its own activity
The type 2 transmembrane serine protease matriptase is involved in many pathophysiological processes probably via its enzymatic activity, which depends on the dynamic relationship between zymogen activation and protease inhibition. Matriptase shedding can prolong the life of enzymatically active matriptase and increase accessibility to substrates. We show here that matriptase shedding occurs vi...
متن کاملDecreased hemojuvelin protein levels in mask mice lacking matriptase-2-dependent proteolytic activity.
Matriptase-2, a membrane protein encoded by the Tmprss6 gene, is a negative regulator of hepcidin expression. Although matriptase-2 has been proposed to cleave membrane hemojuvelin, we have recently found decreased hemojuvelin protein levels in Tmprss6 -/- mice. The purpose of this study was to confirm this observation by determining hemojuvelin protein levels in another strain of mice with dis...
متن کاملAutosomal recessive congenital ichthyosis.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathi...
متن کاملHypotrichosis in a Child with Olmsted Syndrome
1. Subhadarshani S, Singh A, Ramteke PP, Verma KK. Idiopathic eruptive macular pigmentation in an Indian male. Indian Dermatol Online J 2018;8:367‐70. 2. Joshi R. Idiopathic eruptive macular pigmentation with papillomatosis: Report of nine cases. Indian J Dermatol Venereol Leprol 2007;73:402‐5. 3. Joshi R, Palwade PK. Idiopathic eruptive macular pigmentation or acanthosis nigricans? Indian J De...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2007
ISSN: 0021-9258
DOI: 10.1074/jbc.m705521200