Basement membranes and human disease
T Van Agtmael, L Bruckner-Tuderman - Cell and tissue research, 2010 - Springer
T Van Agtmael, L Bruckner-Tuderman
Cell and tissue research, 2010•SpringerIn 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 …
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 …
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.
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