The many faces of plectin and plectinopathies: pathology and mechanisms

Plectin, a giant multifunctional cytolinker protein, plays a crucial role in stabilizing and orchestrating intermediate filament networks in cells. Mutations in the human plectin gene result in multiple diseases manifesting with muscular dystrophy, skin blistering, and signs of neuropathy. The most...

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Bibliographic Details
Published in:	Acta neuropathologica Vol. 125; no. 1; pp. 77 - 93
Main Authors:	Winter, Lilli, Wiche, Gerhard
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer-Verlag 01-01-2013 Springer Springer Nature B.V
Subjects:	Analysis Animals Brain architecture Desmin Desmin - genetics Desmin - metabolism Epidermolysis bullosa Epidermolysis Bullosa Simplex - genetics Epidermolysis Bullosa Simplex - metabolism Epidermolysis Bullosa Simplex - pathology Exons Genetic Predisposition to Disease Hereditary diseases Humans Isoforms Keratin Medicine Medicine & Public Health Mitochondria Muscles Muscular Dystrophies - genetics Muscular Dystrophies - metabolism Muscular Dystrophies - pathology Muscular dystrophy Mutation Myofibrils Neuropathy Neurosciences Pathology Plectin - genetics Plectin - metabolism Proteins Pyloric atresia Review Skeletal muscle Skin Cytolinker proteins Plectin Epidermolysis bullosa simplex Intermediate filaments Muscular dystrophy
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