Results 101 to 110 of about 8,951 (213)
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]
, 2019 COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David +20 more
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Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]
, 2017 Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio +6 more
core +1 more source
Frontiers in Cardiovascular MedicineMitochondrial diseases are rare multisystem disorders caused by pathogenic variants in mitochondrial or nuclear DNA. We report a 23-year-old male presenting with exercise intolerance, fatigue, sluggish responsiveness, and a history of ptosis and ...
Xiao Luo +3 more
doaj +1 more source
Neurobiology of Disease, 2012 Mitochondrial dysfunction plays an important role in the pathogenesis of neurodegenerative diseases, numerous other disease states and senescence. The ability to monitor reactive oxygen species (ROS) within tissues and over time in animal model systems ...
Zhaohui Liu +4 more
doaj +1 more source
Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]
, 2018 Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M +5 more
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Causes of and diagnostic approach to methylmalonic acidurias [PDF]
, 2018 Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
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Determination of coenzyme Q(10) status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with Di-propoxy-coenzyme Q(10) as an internal standard [PDF]
, 2005 Duncan, AJ +5 more
core +1 more source
Neuroprotective effects of carnitinoid compounds in rodent cellular and in vivo models of mitochondrial complex I dysfunction [PDF]
, 2019 Rotenone-mediated mitochondrial complex I inhibition was used to model Parkinson’s disease-like syndrome in Lewis rats. Tyrosine hydroxylase immunolabeling demonstrated a decrease in the number of dopaminergic neurons as well as aberrant morphology in ...
Steliou, Kosta
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La Traducció genètica mitocondrial i malalties associades [PDF]
, 2013 En humans, com en la majoria d'organismes eucariotes, la síntesi proteica té lloc simultàniament al citoplasma i en orgànuls que posseeixen un genoma propi.
Guitart, Tanit +1 more
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An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
Archives of Medicine and Health SciencesMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. Despite its genetic
Shabana Kareem, Reemy Sara Mathai
doaj +1 more source