Results 61 to 70 of about 615,554 (304)
Advanced Science, EarlyView.In a randomized clinical trial, we test the potential of combined nicotinamide (NAM) and pyridoxine (PN) to improve muscle recovery through muscle stem cell (MuSC) activity. Daily oral NAM and PN supplementation after high intensity muscle contractions enhances MuSC activation and differentiation, and accelerates muscle regeneration, providing new ...
Grith Højfeldt +14 more
wiley +1 more source
Salvaging hope: Is increasing NAD+ a key to treating mitochondrial myopathy?
EMBO Molecular Medicine, 2014 Mitochondrial diseases can arise from mutations either in mitochondrial DNA or in nuclear DNA encoding mitochondrially destined proteins. Currently, there is no cure for these diseases although treatments to ameliorate a subset of the symptoms are being ...
Robert N Lightowlers +1 more
doaj +1 more source
MYOPATHY AS A DESTABILIZING FACTOR OF MEAT QUALITY FORMATION
Теория и практика переработки мяса, 2019 This review paper is devoted to myopathy of slaughter animals and poultry, and examines a relationship between fast growth of muscle tissue in hybrid pigs, broiler chickens and turkey, and high frequency of detection of spontaneous or idiopathic ...
Anastasiia A. Semenova +4 more
doaj +1 more source
Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]
, 2018 Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria +2 more
core +1 more source
Advanced Science, EarlyView.The AAA+ ATPase Valosin‐containing protein (VCP/p97) regulates protein homeostasis by unfolding ubiquitinated substrates. Here, we describe UTE‐156, a novel irreversible covalent inhibitor that modifies Cys522 in the D2 ATPase motor domain. Although its pharmacochemical limitations preclude immediate therapeutic use, UTE‐156 serves as a valuable ...
Daniela Tamayo‐Jaramillo +8 more
wiley +1 more source
Potassium dependent rescue of a myopathy with core-like structures in mouse
eLife, 2015 Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. In this study, we identify a mouse RyR1 model in which heterozygous animals
M Gartz Hanson +4 more
doaj +1 more source
Nicotinamide riboside alleviates exercise intolerance in ANT1-deficient mice
Molecular Metabolism, 2022 Objective: Mitochondrial disorders are often characterized by muscle weakness and fatigue. Null mutations in the heart-muscle adenine nucleotide translocator isoform 1 (ANT1) of both humans and mice cause cardiomyopathy and myopathy associated with ...
Patrick M. Schaefer +8 more
doaj +1 more source
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 [PDF]
, 2018 Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle.
Acker, T +11 more
core +2 more sources
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Chronic pneumopathy secondary to swallowing disorder in a patient with mitochondrial myopathy
Iatreia, 2019 Introduction: Chronic lung disease secondary to dysphagia is a frequent complication in patients with neuromuscular diseases. Mitochondrial myopathies could lead to progressive lung damage due to chronic aspiration syndrome. Clinical case: Seven-year-
Palacio Petri, Silvia +2 more
doaj +1 more source