[HTML][HTML] The physiological role of cardiac cytoskeleton and its alterations in heart failure

V Sequeira, LLAM Nijenkamp, JA Regan… - … et Biophysica Acta (BBA …, 2014 - Elsevier
Cardiac muscle cells are equipped with specialized biochemical machineries for the rapid
generation of force and movement central to the work generated by the heart. During each …

Targeting the sarcomere to correct muscle function

PM Hwang, BD Sykes - Nature reviews Drug discovery, 2015 - nature.com
Various human diseases can disrupt the balance between muscle contraction and
relaxation. Sarcomeric modulators can be used to readjust this balance either indirectly by …

[HTML][HTML] 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] Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies

A Brodehl, H Ebbinghaus, MA Deutsch… - International journal of …, 2019 - mdpi.com
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …

[HTML][HTML] Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling

M Chintanaphol, BO Orgil, NR Alberson… - Reviews in …, 2022 - imrpress.com
Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is
characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial …

Understanding the molecular basis of cardiomyopathy

ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …

[PDF][PDF] Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy

S Miyatake, S Mitsuhashi, YK Hayashi… - The American Journal of …, 2017 - cell.com
Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle
disease characterized by muscular weakness of proximal dominance, hypotonia, and …

[HTML][HTML] 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 …

[HTML][HTML] Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived …

K Streckfuss-Bömeke, M Tiburcy, A Fomin, X Luo… - Journal of molecular and …, 2017 - Elsevier
The ability to generate patient-specific induced pluripotent stem cells (iPSCs) provides a
unique opportunity for modeling heart disease in vitro. In this study, we generated iPSCs …

Ferroptosis in calcium oxalate kidney stone formation and the possible regulatory mechanism of ANKRD1

J Zhao, Y Wu, K Zhou, M Huang, Y Sun, J Kang… - … et Biophysica Acta (BBA …, 2023 - Elsevier
The objective of this study was to explore the role of ferroptosis in the formation of calcium
oxalate (CaOx) kidney stones and the regulatory mechanism of the ankyrin repeat domain 1 …