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 the way in which 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.
Van Agtmael
Tom
T
University of Glasgow, UK. tom.van.agtmael@bio.gla.ac.uk
Bruckner-Tuderman
Leena
L
D000818:Animals; D024141:Collagen Type IV / Q000235:genetics* / Q000378:metabolism*; D050533:Glomerular Basement Membrane / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy
C478159:COL4A5 protein, human; D024141:Collagen Type IV