Satellite cells and the muscle stem cell niche

H Yin, F Price, MA Rudnicki - Physiological reviews, 2013 - journals.physiology.org
Adult skeletal muscle in mammals is a stable tissue under normal circumstances but has
remarkable ability to repair after injury. Skeletal muscle regeneration is a highly orchestrated …

Membrane repair: mechanisms and pathophysiology

ST Cooper, PL McNeil - Physiological reviews, 2015 - journals.physiology.org
Eukaryotic cells have been confronted throughout their evolution with potentially lethal
plasma membrane injuries, including those caused by osmotic stress, by infection from …

229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

V Straub, A Murphy, B Udd, A Corrado, S Aymé… - Neuromuscular …, 2018 - Elsevier
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …

Calcium ion in skeletal muscle: its crucial role for muscle function, plasticity, and disease

MW Berchtold, H Brinkmeier… - Physiological …, 2000 - journals.physiology.org
Mammalian skeletal muscle shows an enormous variability in its functional features such as
rate of force production, resistance to fatigue, and energy metabolism, with a wide spectrum …

Defective membrane repair in dysferlin-deficient muscular dystrophy

D Bansal, K Miyake, SS Vogel, S Groh, CC Chen… - Nature, 2003 - nature.com
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by
wasting and weakness of skeletal muscle. Mutations in dysferlin are linked to two clinically …

Mechanisms of membrane fusion: disparate players and common principles

S Martens, HT McMahon - Nature reviews Molecular cell biology, 2008 - nature.com
Membrane fusion can occur between cells, between different intracellular compartments,
between intracellular compartments and the plasma membrane and between lipid-bound …

[HTML][HTML] Genetic basis of limb-girdle muscular dystrophies: the 2014 update

V Nigro, M Savarese - Acta Myologica, 2014 - ncbi.nlm.nih.gov
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

Muscle spindle function in healthy and diseased muscle

S Kröger, B Watkins - Skeletal Muscle, 2021 - Springer
Almost every muscle contains muscle spindles. These delicate sensory receptors inform the
central nervous system (CNS) about changes in the length of individual muscles and the …

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

S Yasunaga, M Cohen-Salmon, A El-Amraoui… - Nature …, 1999 - nature.com
Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an
autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense …

Cellular and molecular mechanisms underlying muscular dystrophy

F Rahimov, LM Kunkel - Journal of Cell Biology, 2013 - rupress.org
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …