Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model and insights from proteomic studies
نویسندگان
چکیده
منابع مشابه
معرفی یک بیمار مبتلا به سندرم ایکتیوزلاملار
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was as...
متن کاملCathepsin D is involved in the regulation of transglutaminase 1 and epidermal differentiation.
We previously demonstrated that the aspartate protease cathepsin D is activated by ceramide derived from acid sphingomyelinase. Increased expression of cathepsin D in the skin has been reported in wound healing, psoriasis and skin tumors. We explored specific functions of cathepsin D during epidermal differentiation. Protein expression and enzymatic activity of cathepsin D increased in differen...
متن کاملLamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase.
We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis. Transglutaminase activity measured in membrane extracts from cultured differentiating keratinocytes was within the range observed in normal individuals. Western blot and Northern blot analysis revealed normal size and ...
متن کاملAnaesthesia recommendations for patients suffering from Lamellar ichthyosis
The ichthyoses comprise a group of keratinisation disorders characterised by generalised scaling of the skin. Lamellar ichthyosis (LI) is usually manifested at birth as a collodion baby with ectropion/eclabion. Collodion membrane means encased in a tight shiny covering. It is characterised afterwards by non-bullous scaling of the whole integument with variable erythroderma. LI is a major subtyp...
متن کاملTransglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.
Lamellar ichthyosis is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. It is caused by mutations in the TGM1 gene that encodes the transglutaminase 1 (TGase 1) enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGase 1 is a complex enzyme existing as both cytosolic and membrane-boun...
متن کامل