[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 …

MicroRNAs in development and disease

D Sayed, M Abdellatif - Physiological reviews, 2011 - journals.physiology.org
MicroRNAs (miRNAs) are a class of posttranscriptional regulators that have recently
introduced an additional level of intricacy to our understanding of gene regulation. There are …

Locus coeruleus cellular and molecular pathology during the progression of Alzheimer's disease

SC Kelly, B He, SE Perez, SD Ginsberg… - Acta neuropathologica …, 2017 - Springer
A major feature of Alzheimer's disease (AD) is the loss of noradrenergic locus coeruleus
(LC) projection neurons that mediate attention, memory, and arousal. However, the extent to …

The muscular dystrophies

AEH Emery - The Lancet, 2002 - thelancet.com
The muscular dystrophies are inherited myogenic disorders characterised by progressive
muscle wasting and weakness of variable distribution and severity. They can be subdivided …

Development of the vertebrate neuromuscular junction

JR Sanes, JW Lichtman - Annual review of neuroscience, 1999 - annualreviews.org
▪ Abstract We describe the formation, maturation, elimination, maintenance, and
regeneration of vertebrate neuromuscular junctions (NMJs), the best studied of all synapses …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

AE Deconinck, JA Rafael, JA Skinner, SC Brown… - Cell, 1997 - cell.com
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy
(DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. In …

Expression of full-length utrophin prevents muscular dystrophy in mdx mice

J Tinsley, N Deconinck, R Fisher, D Kahn, S Phelps… - Nature medicine, 1998 - nature.com
Duchenne muscular dystrophy (DMD) is a lethal, progressive muscle wasting disease
caused by a loss of sarcolemmal bound dystrophin, which results in the death of the muscle …

Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy

RM Grady, H Teng, MC Nichol, JC Cunningham… - Cell, 1997 - cell.com
Dystrophin is a cytoskeletal protein of muscle fibers; its loss in humans leads to Duchenne
muscular dystrophy, an inevitably fatal wasting of skeletal and cardiac muscle. mdx mice …

The dystrophin–glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

TA Rando - Muscle & nerve, 2001 - Wiley Online Library
Mutations of different components of the dystrophin–glycoprotein complex (DGC) cause
muscular dystrophies that vary in terms of severity, age of onset, and selective involvement …