Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference42 articles.
1. Dystrophin: The protein product of the duchenne muscular dystrophy locus
2. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
3. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
4. Dystrophin colocalizes with beta-spectrin in distinct subsarcolemmal domains in mammalian skeletal muscle
5. Direct visualization of the dystrophin network on skeletal muscle fiber membrane.
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3. Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1;Molecular Therapy - Nucleic Acids;2023-12
4. Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain;Biochemical and Biophysical Research Communications;2023-08
5. Evolution and developmental functions of the dystrophin-associated protein complex: beyond the idea of a muscle-specific cell adhesion complex;Frontiers in Cell and Developmental Biology;2023-06-13
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