Genetic evidence in the mouse solidifies the calcium hypothesis of myofiber death in muscular dystrophy

AR Burr, JD Molkentin - Cell Death & Differentiation, 2015 - nature.com
Muscular dystrophy (MD) refers to a clinically and genetically heterogeneous group of
degenerative muscle disorders characterized by progressive muscle wasting and often …

[PDF][PDF] A micropeptide encoded by a putative long noncoding RNA regulates muscle performance

DM Anderson, KM Anderson, CL Chang… - Cell, 2015 - cell.com
Functional micropeptides can be concealed within RNAs that appear to be noncoding. We
discovered a conserved micropeptide, which we named myoregulin (MLN), encoded by a …

Duchenne muscular dystrophy gene therapy in the canine model

D Duan - Human gene therapy Clinical development, 2015 - liebertpub.com
Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease caused by
dystrophin deficiency. Gene therapy has significantly improved the outcome of dystrophin …

SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 …

M Marino, T Stoilova, C Giorgi, A Bachi… - Human molecular …, 2015 - academic.oup.com
Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic
reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease. We …

SERCA1 overexpression minimizes skeletal muscle damage in dystrophic mouse models

DAG Mázala, SJP Pratt, D Chen… - … of Physiology-Cell …, 2015 - journals.physiology.org
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting
secondary to repeated muscle damage and inadequate repair. Elevations in intracellular …

[HTML][HTML] Osteoprotegerin protects against muscular dystrophy

SS Dufresne, NA Dumont, P Bouchard… - The American journal of …, 2015 - Elsevier
Receptor-activator of NF-κB, its ligand RANKL, and the soluble decoy receptor
osteoprotegerin are the key regulators of osteoclast differentiation and bone remodeling …

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype

VA Fajardo, E Bombardier, E McMillan… - Disease models & …, 2015 - journals.biologists.com
Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically
characterized by centrally located nuclei, central aggregation of oxidative activity, and type I …

Sarcolipin and phospholamban inhibit the calcium pump by populating a similar metal ion-free intermediate state

LM Espinoza-Fonseca, JM Autry, DD Thomas - … and biophysical research …, 2015 - Elsevier
We have performed microsecond molecular dynamics (MD) simulations and protein pK a
calculations of the muscle calcium pump (sarcoplasmic reticulum Ca 2+-ATPase, SERCA) in …

Drug discovery of therapies for duchenne muscular dystrophy

Y Blat, S Blat - Journal of biomolecular screening, 2015 - journals.sagepub.com
Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the
loss of the muscle protein, dystrophin, leading to progressive loss of muscle fibers and …

Lipogenesis mitigates dysregulated sarcoplasmic reticulum calcium uptake in muscular dystrophy

CW Paran, K Zou, PJ Ferrara, H Song, J Turk… - Biochimica et Biophysica …, 2015 - Elsevier
Muscular dystrophy is accompanied by a reduction in activity of sarco/endoplasmic reticulum
Ca 2+-ATPase (SERCA) that contributes to abnormal Ca 2+ homeostasis in …