Although best known for its role in heart disease, the sarcomere – the fundamental unit of muscle contraction – is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-datereview of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques currently being used to investigate the pathobiological bases of the diseases, which remain largely unknown, and discuss possible therapeutic options. INDICE: The Sarcomere and Sarcomerogenesis.- Skeletal Muscle Alpha-Actin Diseases.- Nebulin – A Giant Chameleon.- Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin.- Investigations into the Pathobiologyof Thin-Filament Myopathies.- Mouse Models for Thin Filament Disease.- Thick Filament Diseases.- Acute Quadriplegic Myopathy: An Acquired ‘Myosinopathy’.- Third Filament Diseases.- The Z-Disk Diseases.- Intermediate Filament Diseases: Desminopathy.- Muscular Integrity – a Matter of Interlinking Distinct Structures via Plectin.- The Sarcomere and the Nucleus: Functional Links to Hypertrophy, Atrophy and Sarcopenia.- Other Model Organisms for Sarcomeric Muscle Diseases.- Therapeutic Approaches for the Sarcomeric Protein Diseases.
- ISBN: 978-0-387-84846-4
- Editorial: Springer
- Encuadernacion: Cartoné
- Páginas: 245
- Fecha Publicación: 01/12/2008
- Nº Volúmenes: 1
- Idioma: Inglés