Muscle function & homeostasis / molecular therapeutic approaches

Nebulin (600-900 kDa) is a giant filamentous protein located in the thin filament of the skeletal muscle sarcomere. It has a highly modular structure, consisting of more than 200 actin-binding simple repeats along the length of the protein. The simple repeats in the central part of the protein are further organised into super repeats (numbered S1-S22). Mutations in the nebulin gene (NEB, 183 exons) are the most common cause of recessively inherited nemaline myopathy. Due to extensive alternative splicing, hundreds of different nebulin isoforms are expressed in skeletal muscle.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: J. Laitila, M. Hanif, J. Sarparanta, J. Lehtonen, A. Khattab, M. Gr önholm, C. Wallgren-Pettersson, K. Pelin Source Type: research