Results 1 to 10 of about 3,285 (240)

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
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Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]

, 2021
Hueng‐Chuen Fan, Hsiu-Fen Lee, Chen-Tang Yue, Ching‐Shiang Chi   +3 more
openalex   +1 more source

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil

Arquivos de Neuro-Psiquiatria
Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti   +3 more
doaj   +1 more source

hCOA3 stabilizes COX1 and promotes cytochrome c oxidase assembly in human mitochondria [PDF]

, 2013
Cytochrome c oxidase (COX) or complex IV of the mitochondrial respiratory chain plays a fundamental role in energy production of aerobic cells. In humans, COX deficiency is the most frequent cause of mitochondrial encephalomyopathies.
Barrientos, Antoni, Clemente, Paula, Cruz Bermudez, Alberto, Echevarría, Lucía, Fernández Moreno, Miguel A., Fontanesi, Flavia, Garesse, Rafael, Peralta, Susana   +7 more
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Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma [PDF]

, 2009
Fenretinide induces apoptosis in neuroblastoma by induction of reactive oxygen species (ROS). In this study, we investigated the role of mitochondria in fenretinide-induced cytotoxicity and ROS production in six neuroblastoma cell lines. ROS induction by
Roos Cuperus, René Leen, Godelieve A. M. Tytgat, Huib N. Caron, André B. P. van Kuilenburg   +4 more
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1) [PDF]

Journal of Clinical Medicine, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility,
Filosto M., Piccinelli S. C., Caria F., Cassarino S. G., Baldelli E., Galvagni A., Volonghi I., Scarpelli M., Padovani A.   +8 more
openaire   +3 more sources

A case report of an adult MELAS with symptom of digestive system

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.01 ...
Yang WANG, Yan⁃jun GUO, Wei⁃qin ZHAO, Yong⁃bo ZHANG   +3 more
doaj  

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Orphanet Journal of Rare Diseases, 2016
Background The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches
Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali   +7 more
doaj   +1 more source

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease [PDF]

, 2018
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2,
Ardissone, Anna, Bellacchio, Emanuele, Bonnen, Penelope E., Bruni, Francesco, Chrzanowska-Lightowlers, Zofia M. A., Di Meo, Ivano, Diodato, Daria, Enrico, Bertini, Ghezzi, Daniele, Haack, Tobias, He, Langping, Isohanni, Pirjo, Mandel, Hanna, McFarland, Robert, Moroni, Isabella, Prokisch, Holger, Pronicka, Ewa, Skorupa, Ewa, Taylor, Robert W., Tyynismaa, Henna, Walczak, Anna, Webb, Bryn D.   +21 more
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Syndromes associated with mitochondrial DNA depletion [PDF]

, 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial ...
Almeida, Ligia S., Nesti, C., Nogueira, Célia, Pezzini, I., Santorelli, F.M., Videira, A., Vilarinh, Laura   +6 more
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