14 research outputs found
Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy
Basement membranes and human disease
In 1990 the role of basement membranes in human disease was established by the identification of COL4A5 mutations in Alport’s syndrome. Since then the number of diseases caused by mutations in basement membrane components has steadily increased as has our understanding of the roles of basement membranes in organ development and function. However, many questions remain as to the molecular and cellular consequences of these mutations and how they lead to the observed disease phenotypes. Despite this, exciting progress has recently been made with potential treatment options for some of these so far incurable diseases