Structural and signaling proteins in the Z-disk and their role in cardiomyopathies

M Noureddine, K Gehmlich - Frontiers in Physiology, 2023 - frontiersin.org
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 …

The role of Z-disc proteins in myopathy and cardiomyopathy

K Wadmore, AJ Azad, K Gehmlich - International Journal of Molecular …, 2021 - mdpi.com
The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

[HTML][HTML] Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death

R Celeghin, A Cipriani, R Bariani, MB Marinas… - Heart Rhythm, 2022 - Elsevier
Background Mutations in filamin-C (FLNC) are involved in the pathogenesis of
arrhythmogenic cardiomyopathy (ACM) and dilated cardiomyopathy (DCM), and have been …

Filamin C cardiomyopathy variants cause protein and lysosome accumulation

R Agarwal, JA Paulo, CN Toepfer, JK Ewoldt… - Circulation …, 2021 - Am Heart Assoc
Rationale: Dominant heterozygous variants in filamin C (FLNC) cause diverse
cardiomyopathies, although the underlying molecular mechanisms remain poorly …

Filamin C in cardiomyopathy: from physiological roles to DNA variants

S Song, A Shi, H Lian, S Hu, Y Nie - Heart Failure Reviews, 2022 - Springer
Cardiomyopathy affects approximately 1 in 500 adults and is the leading cause of death.
Familial cases are common, and mutations in many genes are involved in cardiomyopathy …

Pressure overload induces ISG15 to facilitate adverse ventricular remodeling and promote heart failure

VG Yerra, SN Batchu, H Kaur… - The Journal of …, 2023 - Am Soc Clin Investig
Inflammation promotes adverse ventricular remodeling, a common antecedent of heart
failure. Here, we set out to determine how inflammatory cells affect cardiomyocytes in the …

Mechanically induced alterations in chromatin architecture guide the balance between cell plasticity and mechanical memory

AK Scott, M Rafuse, CP Neu - Frontiers in Cell and Developmental …, 2023 - frontiersin.org
Phenotypic plasticity, or adaptability, of a cell determines its ability to survive and function
within changing cellular environments. Changes in the mechanical environment, ranging …

Genetic insights into primary restrictive cardiomyopathy

A Brodehl, B Gerull - Journal of Clinical Medicine, 2022 - mdpi.com
Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction,
ventricular stiffness and dilated atria. In consequence, it induces heart failure often with …

Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery

BZ Wang, TR Nash, X Zhang, J Rao, L Abriola… - Cell Reports …, 2023 - cell.com
Restrictive cardiomyopathy (RCM) is defined as increased myocardial stiffness and impaired
diastolic relaxation leading to elevated ventricular filling pressures. Human variants in …

The intercalated disc: a mechanosensing signalling node in cardiomyopathy

M Pruna, E Ehler - Biophysical reviews, 2020 - Springer
Cardiomyocytes, the cells generating contractile force in the heart, are connected to each
other through a highly specialised structure, the intercalated disc (ID), which ensures force …