Results 21 to 30 of about 615,554 (304)

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]

, 2020
Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan, De Paepe, Boel, Verhamme, Fien   +2 more
core   +2 more sources

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy

EMBO Molecular Medicine, 2023
Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy‐dependent, mitochondrial diseases often affect skeletal muscle.
Nneka Southwell, Guido Primiano, Viraj Nadkarni, Nabeel Attarwala, Emelie Beattie, Dawson Miller, Sumaitaah Alam, Irene Liparulo, Yevgeniya I Shurubor, Maria Lucia Valentino, Valerio Carelli, Serenella Servidei, Steven S Gross, Giovanni Manfredi, Qiuying Chen, Marilena D'Aurelio   +15 more
doaj   +1 more source

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

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations

Indian Journal of Pathology and Microbiology, 2022
Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is
Rashmi Santhoshkumar, Gayathri Narayanappa   +1 more
doaj   +1 more source

Muscle biopsy essential diagnostic advice for pathologists

Surgical and Experimental Pathology, 2021
Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis.
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Jaquelin Valicek, Monica M. Navarro, Sidney Baptista Junior, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes, Antonio Pedro Vargas, Rafael Xavier Neto, Julia Filardi Paim   +14 more
doaj   +1 more source

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

PLoS ONE, 2021
BackgroundOur aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.MethodsExome sequencing was performed on patients with high risk for inherited myopathy, which were ...
Ivana Babić Božović, Aleš Maver, Lea Leonardis, Marija Meznaric, Damjan Osredkar, Borut Peterlin   +5 more
doaj   +1 more source

Myopathy reversion in mice after restauration of mitochondrial complex I

EMBO Molecular Medicine, 2020
Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse model lacking
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes   +5 more
doaj   +1 more source

Mitochondrial Myopathies [PDF]

Archives of Neurology, 1998
One of the great challenges in molecular biology is to understand the mechanisms by which a particular genetic defect gives rise to the disease or diseases associated with it. Mitochondrial myopathies are no exception. This review emphasizes some of the important mechanisms that can modify the phenotypic expression of the genetic disorders seen in ...
openaire   +3 more sources

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Flux control of cytochrome c oxidase in human skeletal muscle [PDF]

, 2000
In the present work, by titrating cytochrome c oxidase (COX) with the specific inhibitor KCN, the flux control coefficient and the metabolic reserve capacity of COX have been determined in human saponin-permeabilized muscle fibers. In the presence of the
Attardi, Giuseppe, Elger, Christian E., Kudin, Alexei, Kunz, Wolfram S., Vielhaber, Stefan, Villani, Gaetano   +5 more
core   +1 more source