Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …
Mendelian disease but is now increasingly recognized as having a complex genetic …
Actin bundles dynamics and architecture
Cells use the actin cytoskeleton for many of their functions, including their division,
adhesion, mechanosensing, endo-and phagocytosis, migration, and invasion. Actin bundles …
adhesion, mechanosensing, endo-and phagocytosis, migration, and invasion. Actin bundles …
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies
The sarcomere is the smallest functional unit of muscle contraction. It is delineated by a
protein-rich structure known as the Z-disk, alternating with M-bands. The Z-disk anchors the …
protein-rich structure known as the Z-disk, alternating with M-bands. The Z-disk anchors the …
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)
myopathy. We previously reported a heterozygous missense (c. 740C> T) ACTN2 gene …
myopathy. We previously reported a heterozygous missense (c. 740C> T) ACTN2 gene …
Mutation update for the ACTN2 gene
J Ranta‐aho, M Olive, M Vandroux, G Roticiani… - Human …, 2022 - Wiley Online Library
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and
skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between …
skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between …
Disruption of Z-disc function promotes mechanical dysfunction in human myocardium: evidence for a dual myofilament modulatory role by alpha-actinin 2
M Rodriguez Garcia, J Schmeckpeper… - International Journal of …, 2023 - mdpi.com
The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …
Molecular genetic mechanisms of dilated cardiomyopathy
JT Hinson - Current opinion in genetics & development, 2022 - Elsevier
Heart failure (HF) is a rapidly growing cardiovascular condition with a prevalence of~ 40
million individuals worldwide [1]. While HF can be caused by acquired conditions such as …
million individuals worldwide [1]. While HF can be caused by acquired conditions such as …
Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
J Ranta‐aho, KJ Felice, PH Jonson… - Annals of clinical …, 2024 - Wiley Online Library
Objective The objective of the study is to characterize the pathomechanisms underlying
actininopathies. Distal myopathies are a group of rare, inherited muscular disorders …
actininopathies. Distal myopathies are a group of rare, inherited muscular disorders …
FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms
Aims Rare, deleterious genetic variants in FLT4 are associated with Tetralogy of Fallot
(TOF), the most common cyanotic congenital heart disease (CHD). Distinct genetic variants …
(TOF), the most common cyanotic congenital heart disease (CHD). Distinct genetic variants …
A transcriptional enhancer regulates cardiac maturation
Cardiomyocyte maturation is crucial for generating adult cardiomyocytes and the application
of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs). However, regulation at …
of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs). However, regulation at …