Associated Papers
Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.
Noureddine M et al.
The Journal of General Physiology, 2025
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.
Broadway-Stringer S et al.
Cells, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.
Zech ATL et al.
Cells, 2022
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.
Park J et al.
Frontiers in Pediatrics, 2021
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X et al.
Acta Neuropathologica, 2019
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Fan LL et al.
Cytogenetic and Genome Research, 2019
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5
Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.
Haywood NJ et al.
The Biochemical Journal, 2016
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
26312134 (PubMed )
Supplement: 13578_2015_29_MOESM1_ESM.pdf
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
Chiu C et al.
Journal of the American College of Cardiology, 2010
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Theis JL et al.
Biochemical and Biophysical Research Communications, 2006
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