Results 51 to 60 of about 615,554 (304)

The selectivity and specificity of autophagy in drosophila [PDF]

, 2012
Autophagy is a process of cellular self-degradation and is a major pathway for elimination of cytoplasmic material by the lysosomes. Autophagy is responsible for the degradation of damaged organelles and protein aggregates and therefore plays a ...
Chou, Clark, Contamine, Deng, Dezelee, Finley, Fouillet, Goto, Kadandale, McPhee, Midorikawa, Nezis, Nisoli, Novak, Orvedahl, Pankiv, Park, Rello-Varona, Schweers, Shoji, Simonsen, Tian, Webb, Wild, Wyers, Yu, Yu, Ziviani   +27 more
core   +2 more sources

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

Molecular Genetics and Metabolism Reports, 2021
A 29-year-old man developed, since the age of 18, exercise intolerance and exercise-induced rhabdomyolysis, with myoglobinuria. Muscle biopsy showed ragged-red fibers. Multiple mitochondrial DNA deletions were detected. The previously reported pathogenic
Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González   +7 more
doaj   +1 more source

Opantimirs: A class of antagonizing microRNAs that upregulate Opa1 and improve mitochondrial and disuse myopathies

Cell Reports Medicine
Summary: Alterations in mitochondrial ultrastructure and reduced levels of the crista-shaping protein Opa1 are key features of mitochondrial myopathies and aging.
Andre Djalalvandi, Keisuke Takeda, Francesca Grespi, Hualin Fan, Tiago Branco Fonseca, Leonardo Nogara, Saman Sharifi, Carlotta Barison, Martina Semenzato, Akiko Omori, Raffaele Cerutti, Davide Steffan, Lorenza Tsansizi, Valeria Balmaceda, Lukas Alan, Camilla Bean, Bert Blaauw, Carlo Viscomi, Luca Scorrano   +18 more
doaj   +1 more source

Flow cytometric probing of mitochondrial function in equine peripheral blood mononuclear cells

BMC Veterinary Research, 2007
Background The morphopathological picture of a subset of equine myopathies is compatible with a primary mitochondrial disease, but functional confirmation in vivo is still pending.
Coignoul Freddy, Baise Etienne, Sarlet Michaël, Fett Thomas, Cassart Dominique, Desmecht Daniel   +5 more
doaj   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies

Neuromuscular Disorders, 2012
In mitochondrial myopathies with respiratory chain deficiency impairment of energy cell production may lead to in excess reactive oxygen species generation with consequent oxidative stress and cell damage.
G. Siciliano, C. Simoncini, A. L. Gerfo, D. Orsucci, G. Ricci, M. Mancuso   +5 more
semanticscholar   +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

Characteristics of metabolic myopathies among Egyptian patients

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal, Hebatallah Rashed, Maha Nada, Hossam Sakr, Nagia Fahmy   +4 more
doaj   +1 more source

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

Diagnosis and treatment of mitochondrial myopathies

Annals medicus, 2011
Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these ...
G. Pfeffer, P. Chinnery
semanticscholar   +1 more source