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 …

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

KA Lapidos, R Kakkar, EM McNally - Circulation research, 2004 - Am Heart Assoc
The dystrophin glycoprotein complex (DGC) is a specialization of cardiac and skeletal
muscle membrane. This large multicomponent complex has both mechanical stabilizing and …

[HTML][HTML] Genetic mutations and mechanisms in dilated cardiomyopathy

EM McNally, JR Golbus… - The Journal of clinical …, 2013 - Am Soc Clin Investig
Genetic mutations account for a significant percentage of cardiomyopathies, which are a
leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac …

Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

S Noguchi, EM McNally, KB Othmane, Y Hagiwara… - Science, 1995 - science.org
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive
muscle-wasting disorder common in North Africa that segregates with microsatellite markers …

β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

CG Bönnemann, R Modi, S Noguchi, Y Mizuno… - Nature …, 1995 - nature.com
The dystrophin associated proteins (DAPs) are good candidates for harboring primary
mutations in the genetically heterogeneous autosomal recessive muscular dystrophies …

Myosin subfragment-1 is sufficient to move actin filaments in vitro

YY Toyoshima, SJ Kron, EM McNally, KR Niebling… - Nature, 1987 - nature.com
The rotating crossbridge model for muscle contraction1 proposes that force is produced by a
change in angle of the crossbridge between the overlapping thick and thin filaments …

Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy

ED Smith, NK Lakdawala, N Papoutsidakis, G Aubert… - Circulation, 2020 - Am Heart Assoc
Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac
desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy …

[HTML][HTML] The Dystrophin Complex: structure, function and implications for therapy

Q Gao, EM McNally - Comprehensive Physiology, 2015 - ncbi.nlm.nih.gov
The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of
function mutations in the genes encoding dystrophin, or the associated proteins, triggers …

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

TG Thompson, YM Chan, AA Hack, M Brosius… - The Journal of cell …, 2000 - rupress.org
Mutations in genes encoding for the sarcoglycans, a subset of proteins within the dystrophin–
glycoprotein complex, produce a limb-girdle muscular dystrophy phenotype; however, the …

Nesprin‐1α self‐associates and binds directly to emerin and lamin A in vitro

JMK Mislow, JM Holaska, MS Kim, KK Lee… - FEBS …, 2002 - Wiley Online Library
Nesprin‐1α is a spectrin repeat (SR)‐containing, transmembrane protein of the inner
nuclear membrane, and is highly expressed in muscle cells. A yeast two‐hybrid screen for …