نتایج جستجو برای: mitochondrial disorders
تعداد نتایج: 792831 فیلتر نتایج به سال:
Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the...
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. Mo...
Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder. There is a large quantity of evidence which point towards a positive correlation between Autism and Mitochondrial disorders (MD). In addition to that, several published reports, indicate that people with neurological disorders exhibit pathological signs of mitochondrial disorders and vice versa. Screening for underly...
introduction: neurodegenerative diseases are progressive disorders that could impair neuronal functions and structures. oxidative stress and mitochondrial dysfunction are involved in the etiology of neurodegenerative diseases such as alzheimer’s disease, parkinson’s disease and etc. gemfibrozil is used as a therapeutic drug for hyperlipidemia. it has been shown that gemfibrozil is neuroprotecti...
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. The disorders are clinically and genetically heterogeneous and the aetiology could be found in the mitochondrial, or in the nuclear genome. We searched important e-databases for the...
Mitochondrial diseases are systemic, prevalent and often fatal; yet treatments remain scarce. Identifying molecular intervention points that can be therapeutically targeted remains a major challenge, which we confronted via a screening assay we developed. Using yeast models of mitochondrial ATP synthase disorders, we screened a drug repurposing library, and applied genomic and biochemical techn...
Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the mo...
Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system involvement and disease progression are common features of mitochondrial disorders they carry substantial morbidity and mortality. Despite this, no disease-modifying treatments exist with clear clinical benefits, and the current best management ...
Mitochondrial disorders were first described in 1962 (Luft, Ikkos, Palmieri, Ernster, & Afzelius, 1962), and were initially thought to be uniformly progressive and fatal with onset in infancy or early childhood, typically associated with severe neurological manifestations, including strokelike episodes, seizures, neuronal degeneration, organ failure and dementia. More recently, clinical observa...
Mitochondrial Respiratory Chain Disorders (MRCD) are a heterogeneous group of disorders that share the involvement of the cellular bioenergetic machinery due to molecular defects affecting the mitochondrial oxidative phosphorylation system (OXPHOS). Clinically, they usually involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle. Cardiological manifestati...
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