Results 151 to 160 of about 44,988 (276)

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy [PDF]

, 2015
Anca Florian, Anna Ludwig, Bianca Stubbe-Dräger, Matthias Boentert, Peter Young, Johannes Waltenberger, Sabine Rösch, Udo Sechtem, Ali Yılmaz   +8 more
openalex   +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

Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. [PDF]

Trials, 2022
AIMM Trial Group:, Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G.   +25 more
europepmc   +1 more source

Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans [PDF]

, 1994
Randall Rago, Janet Miles, Robert Sufit, David R. Spriggs, George Wilding   +4 more
openalex   +1 more source

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

Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. [PDF]

Trials, 2022
AIMM Trial Group:, Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G.   +25 more
europepmc   +1 more source

RyR1 protein content is reduced in inflammatory and mitochondrial myopathies and induces ER stress [PDF]

, 2023
Jeremy Vidal, Eric Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez Mejia, Julien Ochala, Isabel C. López‐Mejía, Johannes Alexandre Lobrinus, Bengt Kayser, Nicolas Place, Nadège Zanou   +10 more
openalex   +1 more source

Low‐dose lithium supplementation promotes musculoskeletal and metabolic health in ovariectomized female mice

The Journal of Physiology, EarlyView.
Abstract figure legend Low‐dose lithium supplementation in ovariectomized mice enhances skeletal muscle contractility (isometric force and fatigue resistance), SERCA function and promotes favourable transcriptional reprogramming, while increasing bone density and modestly improving insulin sensitivity.
Bianca M. Marcella, Jessica L. Braun, Amélie A.T. Marais, Briana L. Hockey, Mia S. Geromella, Ryan W. Baranowski, Rene Vandenboom, Rebecca E.K. MacPherson, Val A. Fajardo   +8 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source