Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

The role of autophagy in the heart

S Sciarretta, Y Maejima, D Zablocki… - Annual review of …, 2018 - annualreviews.org
Autophagy is an evolutionarily conserved mechanism by which cytoplasmic elements are
degraded intracellularly. Autophagy has also emerged as a major regulator of cardiac …

The mechanistic target of rapamycin: the grand conducTOR of metabolism and aging

BK Kennedy, DW Lamming - Cell metabolism, 2016 - cell.com
Since the discovery that rapamycin, a small molecule inhibitor of the protein kinase mTOR
(mechanistic target of rapamycin), can extend the lifespan of model organisms including …

Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

[HTML][HTML] Mechanisms regulating neuromuscular junction development and function and causes of muscle wasting

LA Tintignac, HR Brenner… - Physiological …, 2015 - journals.physiology.org
The neuromuscular junction is the chemical synapse between motor neurons and skeletal
muscle fibers. It is designed to reliably convert the action potential from the presynaptic …

When lamins go bad: nuclear structure and disease

KH Schreiber, BK Kennedy - Cell, 2013 - cell.com
Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a
group of phenotypically diverse genetic disorders known as laminopathies, which have …

Emery‐Dreifuss muscular dystrophy

SA Heller, R Shih, R Kalra, PB Kang - Muscle & nerve, 2020 - Wiley Online Library
Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly
important to diagnose due to frequent life‐threatening cardiac complications. EDMD …

Rapamycin reverses elevated mTORC1 signaling in lamin A/C–deficient mice, rescues cardiac and skeletal muscle function, and extends survival

FJ Ramos, SC Chen, MG Garelick, DF Dai… - Science translational …, 2012 - science.org
Mutations in LMNA, the gene that encodes A-type lamins, cause multiple diseases including
dystrophies of the skeletal muscle and fat, dilated cardiomyopathy, and progeria-like …

[HTML][HTML] Progeria: a paradigm for translational medicine

LB Gordon, FG Rothman, C López-Otín, T Misteli - Cell, 2014 - cell.com
Progeria: A Paradigm for Translational Medicine: Cell Skip to Main Content Advertisement Cell
This journal offers authors two options (open access or subscription) to publish research This …