[HTML][HTML] Intermediate filament proteins and their associated diseases
MB Omary, PA Coulombe… - New England Journal of …, 2004 - Mass Medical Soc
MB Omary, PA Coulombe, WHI McLean
New England Journal of Medicine, 2004•Mass Medical SocIntermediate filaments provide scaffolding for the cell and protect it against stress. This
comprehensive review points out that there are more than 100 intermediate filament genes
and that mutant intermediate filament proteins cause more than 30 diseases. Selective
expression of these genes in particular tissues accounts for tissue-specific diseases caused
by mutant intermediate filament genes, such as epidermolysis bullosa simplex and certain
types of cardiomyopathy.
comprehensive review points out that there are more than 100 intermediate filament genes
and that mutant intermediate filament proteins cause more than 30 diseases. Selective
expression of these genes in particular tissues accounts for tissue-specific diseases caused
by mutant intermediate filament genes, such as epidermolysis bullosa simplex and certain
types of cardiomyopathy.
Intermediate filaments provide scaffolding for the cell and protect it against stress. This comprehensive review points out that there are more than 100 intermediate filament genes and that mutant intermediate filament proteins cause more than 30 diseases. Selective expression of these genes in particular tissues accounts for tissue-specific diseases caused by mutant intermediate filament genes, such as epidermolysis bullosa simplex and certain types of cardiomyopathy.
The New England Journal Of Medicine