Results 141 to 150 of about 1,023,457 (221)

Daridorexant‐ Case Report of Possible Side‐Effect in Rare Mitochondrial Disorder

Journal of Sleep Research, EarlyView.
ABSTRACT This case report describes a 40‐year‐old woman with maternally inherited diabetes and deafness (MIDD), a rare mitochondrial disorder, who received treatment with daridorexant due to severe chronic insomnia. She developed progression of her MIDD symptoms during treatment.
Sven Svedmyr, Joel Bergqvist
wiley   +1 more source

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
europepmc   +1 more source

Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse

Experimental Physiology, EarlyView.
Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley   +1 more source

When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis. [PDF]

Eur J Case Rep Intern Med
Teixeira Lima B, Carvalho AS, Camarneiro AC, Baptista BAM, Rocha Gomes R, Brás MI, Magalhães S.   +6 more
europepmc   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

First reported case of adult-onset very long-chain acyl-coa dehydrogenase (vlcad) deficiency in Vietnam: a rare metabolic myopathy. [PDF]

Mol Genet Metab Rep
Kieu VP, Nguyen TVV, Vu AD.
europepmc   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness. [PDF]

Cureus
Ali RAA, Jadah RHSH.
europepmc   +1 more source

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort [PDF]

JIMD Rep
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Martín‐Hernández E, Barrio‐Carreras D, Martín‐Cazaña M, García‐Cárdaba L, Martín‐Fernández C, Pérez‐Mohand P, Chamorro T, Crespo B, Ruiz‐Sala P, Alonso P, Quijada‐Fraile P.   +10 more
europepmc   +2 more sources

The mitochondrial‐targeted antioxidant SkQ1 prevents skeletal muscle mitochondrial‐apoptotic but not necroptotic signalling during ovarian cancer

The Journal of Physiology, EarlyView.
Abstract figure legend An evaluation of the degree to which mitochondrial hydrogen peroxide emission (mH2O2)‐mediated apoptotic and necroptotic signalling contributes to skeletal muscle atrophy in an orthotopic epithelial ovarian cancer (EOC) model. To determine whether attenuating mH2O2 could prevent regulated cell death signalling and mitigate muscle
Shahrzad Khajehzadehshoushtar, Luca J. Delfinis, Fasih A. Rahman, Madison C. Garibotti, Shivam Gandhi, Aditya N. Brahmbhatt, Brooke A. Morris, Bianca Garlisi, Sylvia Lauks, Caroline Aitken, Leslie Ogilvie, Zhu‐Xu Zhang, Jeremy A. Simpson, Joe Quadrilatero, Jim Petrik, Christopher G. R. Perry   +15 more
wiley   +1 more source