Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function
Author:
Publisher
Springer Science and Business Media LLC
Subject
Molecular Biology,Structural Biology,Biophysics
Link
https://link.springer.com/content/pdf/10.1007/s12551-022-01027-4.pdf
Reference28 articles.
1. Agrawal PB, Greenleaf RS, Tomczak KK et al (2007) Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2. Am J Hum Genet 80:162–167. https://doi.org/10.1086/510402
2. Chen X, Ni F, Kondrashkina E et al (2015) Mechanisms of leiomodin 2-mediated regulation of actin filament in muscle cells. Proc Natl Acad Sci 112:12687–12692. https://doi.org/10.1073/pnas.1512464112
3. Erba HP, Eddy R, Shows T et al (1988) Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. Mol Cell Biol 8:1775–1789. https://doi.org/10.1128/MCB.8.4.1775
4. Feng J-J, Marston S (2009) Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord 19:6–16. https://doi.org/10.1016/j.nmd.2008.09.005
5. Galkin VE, Orlova A, Schröder GF, Egelman EH (2010) Structural polymorphism in F-actin. Nat Struct Mol Biol 17:1318–1323. https://doi.org/10.1038/nsmb.1930
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1. Computational biophysics and structural biology of proteins—a Special Issue in honor of Prof. Haruki Nakamura’s 70th birthday;Biophysical Reviews;2022-12
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