, Volume 339, Issue 1, pp 167-188

Basement membranes and human disease

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Abstract

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.

T.V.A is sponsored by an MRC New Investigator Research Grant and L.B.-T. by the Excellence Initiative of the German Federal and State Governments (Freiburg Institute for Advanced Studies, FRIAS, School of Life Sciences), by the Network Epidermolysis Bullosa grant from the Federal Ministry for Education and Research (BMBF), and by Debra International.