Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Heart Failure"
DOI: 10.1002/ejhf.782
Abstract: Mitochondrial disease (MD) is a genetic disorder affecting skeletal muscles, with possible myocardial disease. The ergoreflex, sensitive to skeletal muscle work, regulates ventilatory and autonomic responses to exercise. We hypothesized the presence of an increased… read more here.
Keywords: skeletal muscle; ergoreflex sensitivity; disease; increased ergoreflex ... See more keywords
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23723
Abstract: Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT‐ATP6 was among the first described human mitochondrial DNA diseases. Due… read more here.
Keywords: atp6 mitochondrial; biochemical features; atp6 variants; mitochondrial disease ... See more keywords
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12319
Abstract: Mitochondria share extensive evolutionary conservation across nearly all living species. This homology allows robust insights to be gained into pathophysiologic mechanisms and therapeutic targets for the heterogeneous class of primary mitochondrial diseases (PMDs) through the… read more here.
Keywords: medicine; disease; mitochondrial disease; gene ... See more keywords
Movement disorders in mitochondrial disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8722-6
Abstract: Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus,… read more here.
Keywords: neurology; movement; disease; disorders mitochondrial ... See more keywords
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1794-7
Abstract: The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects found both in the mitochondrial genome as well as in the nuclear… read more here.
Keywords: medulla oblongata; mutated pet117; mitochondrial disease; complex deficiency ... See more keywords
Erratum to: The clinical and genetic characteristics in children with mitochondrial disease in China
Sign Up to like & getrecommendations! Published in 2017 at "Science China Life Sciences"
DOI: 10.1007/s11427-017-9130-4
Abstract: 1.The post code for the fourth address in the affiliation should be 050031.2.Three items are missing in the first row of Table 1. The correct form of the first row is as follows:3.The second “55%”… read more here.
Keywords: erratum clinical; characteristics children; clinical genetic; children mitochondrial ... See more keywords
Headache and migraine in mitochondrial disease and its impact on life—results from a cross-sectional, questionnaire-based study
Sign Up to like & getrecommendations! Published in 2021 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-021-01630-4
Abstract: Headache is frequent in patients with mitochondrial disorders. Previous studies point to a higher prevalence of headache in these patients than in the general population. As mitochondrial disorders often present a variety of other symptoms,… read more here.
Keywords: disease; study; questionnaire; mitochondrial disease ... See more keywords
Rapamycin administration is not a valid therapeutic strategy for every case of mitochondrial disease
Sign Up to like & getrecommendations! Published in 2019 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2019.03.025
Abstract: Background The vast majority of mitochondrial disorders have limited the clinical management to palliative care. Rapamycin has emerged as a potential therapeutic drug for mitochondrial diseases since it has shown therapeutic benefits in a few… read more here.
Keywords: mitochondrial disorders; rapamycin administration; mitochondrial disease; rapamycin ... See more keywords
Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.
Sign Up to like & getrecommendations! Published in 2019 at "Mitochondrion"
DOI: 10.1016/j.mito.2019.04.005
Abstract: In this exploratory study we aimed to select the most valid and feasible accelerometer to measure daily physical activity at home in 10 children with mitochondrial disease. Using the experimentally-selected GENEActiv, good to excellent short-… read more here.
Keywords: daily physical; children mitochondrial; physical activity; mitochondrial disease ... See more keywords
Blood cell respiration rates and mtDNA copy number: a promising tool for the diagnosis of mitochondrial disease.
Sign Up to like & getrecommendations! Published in 2021 at "Mitochondrion"
DOI: 10.1016/j.mito.2021.09.004
Abstract: Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple… read more here.
Keywords: mitochondrial function; disease; number; diagnosis mitochondrial ... See more keywords
Re-definition and supporting evidence toward Fanconi Anemia as a mitochondrial disease: Prospects for new design in clinical management.
Sign Up to like & getrecommendations! Published in 2021 at "Redox biology"
DOI: 10.1016/j.redox.2021.101860
Abstract: Fanconi anemia (FA) has been investigated since early studies based on two definitions, namely defective DNA repair and proinflammatory condition. The former definition has built up the grounds for FA diagnosis as excess sensitivity of… read more here.
Keywords: definition; fanconi anemia; mitochondrial disease; evidence ... See more keywords