Cracks in the foundation: keratin filaments and genetic disease

Elaine Fuchs; Yiu mo Chan; Amy S. Paller; Qian Chu Yu

doi:10.1016/0962-8924(94)90233-X

Cracks in the foundation: keratin filaments and genetic disease

Elaine Fuchs^*, Yiu mo Chan, Amy S. Paller, Qian Chu Yu

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

In the past three years, defects in the genes that encode intermediate filament (IF) proteins have been found to be responsible for some inherited skin diseases, and others have been implicated in certain motor neuron diseases and cardiomyopathies. This article reviews how knowledge of IF structure led to the discovery of genetic disorders of IFs, and how the clinical manifestations of these diseases have confirmed the notion that IFs provide the mechanical strength of cells.

Original language	English (US)
Pages (from-to)	321-326
Number of pages	6
Journal	Trends in Cell Biology
Volume	4
Issue number	9
DOIs	https://doi.org/10.1016/0962-8924(94)90233-X
State	Published - Sep 1994

ASJC Scopus subject areas

Cell Biology

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10.1016/0962-8924(94)90233-X

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title = "Cracks in the foundation: keratin filaments and genetic disease",

abstract = "In the past three years, defects in the genes that encode intermediate filament (IF) proteins have been found to be responsible for some inherited skin diseases, and others have been implicated in certain motor neuron diseases and cardiomyopathies. This article reviews how knowledge of IF structure led to the discovery of genetic disorders of IFs, and how the clinical manifestations of these diseases have confirmed the notion that IFs provide the mechanical strength of cells.",

author = "Elaine Fuchs and Chan, {Yiu mo} and Paller, {Amy S.} and Yu, {Qian Chu}",

year = "1994",

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AU - Paller, Amy S.

AU - Yu, Qian Chu

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AB - In the past three years, defects in the genes that encode intermediate filament (IF) proteins have been found to be responsible for some inherited skin diseases, and others have been implicated in certain motor neuron diseases and cardiomyopathies. This article reviews how knowledge of IF structure led to the discovery of genetic disorders of IFs, and how the clinical manifestations of these diseases have confirmed the notion that IFs provide the mechanical strength of cells.

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Cracks in the foundation: keratin filaments and genetic disease

Abstract

ASJC Scopus subject areas

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