[HTML][HTML] Overview of the muscle cytoskeleton

CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells

M Kim, V Franke, B Brandt, ED Lowenstein… - Nature …, 2020 - nature.com
Syncytial skeletal muscle cells contain hundreds of nuclei in a shared cytoplasm. We
investigated nuclear heterogeneity and transcriptional dynamics in the uninjured and …

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

MF Ortiz-Genga, S Cuenca, M Dal Ferro, E Zorio… - Journal of the American …, 2016 - jacc.org
Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment
to the plasmatic membrane. FLNC mutations have been associated with myofibrillar …

Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments

N Orphanou, E Papatheodorou, A Anastasakis - Heart failure reviews, 2022 - Springer
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …

The filamins: organizers of cell structure and function

F Nakamura, TP Stossel, JH Hartwig - Cell adhesion & migration, 2011 - Taylor & Francis
Filamin A (FLNa), the first non-muscle actin filament cross-linking protein, was identified in
1975. Thirty five years of FLNa research has revealed its structure in great detail, discovered …

Chaperone-assisted selective autophagy is essential for muscle maintenance

V Arndt, N Dick, R Tawo, M Dreiseidler, D Wenzel… - Current Biology, 2010 - cell.com
How are biological structures maintained in a cellular environment that constantly threatens
protein integrity? Here we elucidate proteostasis mechanisms affecting the Z disk, a protein …

A mutation update for the FLNC gene in myopathies and cardiomyopathies

JAJ Verdonschot, EK Vanhoutte, GRF Claes… - Human …, 2020 - Wiley Online Library
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

Endocytosis and signaling: cell logistics shape the eukaryotic cell plan

S Sigismund, S Confalonieri, A Ciliberto… - Physiological …, 2012 - journals.physiology.org
Our understanding of endocytosis has evolved remarkably in little more than a decade. This
is the result not only of advances in our knowledge of its molecular and biological workings …