The dystrophin protein family
Diana Hazai
Broschiertes Buch

The dystrophin protein family

Localization and physiological role

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Duchenne muscular dystrophy (DMD)is one of the most common, severe human disease. Mutations in the DMD gene are responsible for the disorder. Due to the mutations, dystrophin proteins are not expressed or expressed in functionally impaired form. The dystrophins are members of the dystrophin-associated protein complex (DAPC)located in the sarcolemma in the striated muscle. The DAPC links the extracellular matrix to the actin-based cytoskeleton and anchors signalling molecules. DAPC proteins are also localized in neurons and glia cells within the central nervous system and they interact with eac...