Manthoula Valari
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View article: A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function
A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function Open
Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive neuromuscular disorder marked by ataxia, muscle weakness, cataracts, and often intellectual and skeletal abnormalities. It is commonly caused by loss-of-function variants in th…
View article: Initial validation of the epidermolysis bullosa‐specific module of the Infants and Toddlers Dermatology Quality of Life questionnaire
Initial validation of the epidermolysis bullosa‐specific module of the Infants and Toddlers Dermatology Quality of Life questionnaire Open
Children with epidermolysis bullosa (EB) experienced the highest quality of life impact among several skin conditions and have problems which had not been reported by parents of children with other skin diseases. The EB-specific module of …
View article: Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations Open
View article: Activography reveals aberrant proteolysis in desquamating diseases of differing backgrounds
Activography reveals aberrant proteolysis in desquamating diseases of differing backgrounds Open
The role of epidermal proteolysis in overdesquamation was revealed in Netherton syndrome, a rare ichthyosis due to genetic deficiency of the LEKTI inhibitor of serine proteases. Recently, we developed activography, a new histochemical meth…
View article: Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis Open