Results 41 to 50 of about 42,806 (266)

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]

, 2009
Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique, Bauché, Stéphanie, Bigard, Xavier, Conjard-Duplany, Agnès, Corneloup, Claudine, Defour, Aurélia, Ferrier, Bernard, Ferry, Arnaud, Freyssenet, Damien, Gangloff, Yann-Gaël, Hantaï, Daniel, Koulmann, Nathalie, Kozma, Sara C., Le-Marchand-Brustel, Yannick, Mazelin, Laetitia, Moncollin, Vincent, Mueller, Matthias, Pende, Mario, Richard-Bulteau, Hélène, Risson, Valérie, Roceri, Mila, Romanino, Klaas, Rüegg, Markus A., Sanchez, Hervé, Schaeffer, Laurent, Tanti, Jean-François, Thomas, George, Vignaud, Alban   +27 more
core   +5 more sources

Recent Trends in Metabolomics by NMR Spectroscopy

Angewandte Chemie, EarlyView.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco, Gaia Meoni, Veronica Ghini, Alessia Vignoli, Leonardo Tenori, Paola Turano, Claudio Luchinat   +6 more
wiley   +2 more sources

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions

Case Reports in Neurological Medicine, 2019
The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion.
V. Montano, C. Simoncini, Cassi L. Calì, A. Legati, G. Siciliano, M. Mancuso   +5 more
doaj   +1 more source

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Don’t stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility

BMC Anesthesiology, 2019
Background We aim to describe the evaluation and management of a patient with the uncommon combination of both mitochondrial myopathy and possible malignant hyperthermia susceptibility as an important source of information and as a valuable example of ...
Marci B. Pepper, Catherine Njathi-Ori, Michelle Ochs Kinney   +2 more
doaj   +1 more source

Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]

, 2016
A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian, Dimmock, David P., Friederich, Marisa W., Geurts, Aron M., Helbling, Daniel, Jarzembowski, Jason, Lawlor, Michael W., Meng, Hui, Van Hove, Johan L.K.   +8 more
core   +2 more sources

Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou   +10 more
doaj   +1 more source

The role of Coenzyme Q10 in statin-associated myopathy [PDF]

, 2009
Statins, or 3-hydroxyl-3-methylglutaryl coenzyme HMG-CoA reductase inhibitors,\ud are cholesterol-lowering drugs which are frequently used in the primary and secondary\ud prevention of coronary artery disease. Current research and recommendations support\
Kalra, Dr Sanjay
core  

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, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source