Article
Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins.
Methods in enzymology - 1 Jan 2016
Tan Tong San, Ng Yi Zhen, Badowski Cedric, Dang Tram, Common John E A, Lacina Lukas, Szeverényi Ildikó, Lane E Birgitte
Abstract excerpt
The discovery of the causative link between keratin mutations and a growing number of human diseases opened the way for a better understanding of the function of the whole intermediate filament families of cytoskeleton proteins. This chapter describes analytical approaches to identification and interpretation of the consequences of keratin mutations, from the clinical and diagnostic level to cells in tissue...
Topics
- Animals
- Epidermis
- Epidermolysis Bullosa
- Humans
- Intermediate Filaments
- Keratins
- Mutation