Results 21 to 30 of about 444,467 (232)

A review of several myopathy related to mitochondrial dysfunction

open access: yesНотатки сучасної біології, 2022
The balance of protein production and consumption in muscles depends to a large extent on normal mitochondrial function. Mitochondrial dysfunction is inseparable from the occurrence of myopathy.
Wang Nan   +2 more
doaj   +1 more source

Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy. [PDF]

open access: yes, 2013
Highly-active antiretroviral therapy (HAART) can induce a characteristic lipodystrophy syndrome characterized by peripheral fat wasting and central adiposity, usually associated with hyperlipidaemia and insulin resistance [1,2].
Cardellach, Francesc   +5 more
core   +5 more sources

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

open access: yesFrontiers in Genetics, 2015
Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease.
Elizabeth eMcCormick   +2 more
doaj   +1 more source

In Vitro Assays for the Assessment of Impaired Mitochondrial Bioenergetics in Equine Atypical Myopathy

open access: yesLife, 2021
Equine atypical myopathy is a seasonal intoxication of grazing equids. In Europe, this poisoning is associated with the ingestion of toxins contained in the seeds and seedlings of the sycamore maple (Acer pseudoplatanus).
Caroline-J. Kruse   +6 more
doaj   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

open access: yesHepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro   +17 more
wiley   +1 more source

FAD synthase deficiency: a severe mitochondrial myopathy involving a secondary reduction of RFVT2 expression

open access: yes, 2022
The redox cofactor FAD is essential for mitochondrial functionality: in the inner- membrane it ensures the activity of the respiratory chain complex II and of the ETF/ETFQO system, in the matrix the oxidation of pyruvate and other α-oxoacids as well ...
Angela M.S. Lezza   +25 more
core   +1 more source

Anesthetic care for a child with undiagnosed myopathic/mitochondrial disease for gastrostomy tube placement and muscle biopsy. [PDF]

open access: yesPediatric Anesthesia and Critical Care Journal (PACCJ), 2020
Disorders of the motor nerves, neuromuscular junction or muscle can affect children of all ages. These patients may present for therapeutic or diagnostic procedures (muscle and nerve biopsy) prior to arrival at a definitive diagnosis.
D. M. Munlemvo   +4 more
doaj   +1 more source

Mitochondrial myopathies [PDF]

open access: yesCurrent Opinion in Rheumatology, 2006
Our understanding of mitochondrial diseases (defined restrictively as defects of the mitochondrial respiratory chain) is expanding rapidly. In this review, I will give the latest information on disorders affecting predominantly or exclusively skeletal muscle.The most recently described mitochondrial myopathies are due to defects in nuclear DNA ...
openaire   +3 more sources

Mitochondrial Myopathies [PDF]

open access: yesArchives 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

Reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy [PDF]

open access: yes, 2013
Direct evidence confirming the hypothesis that a dysfunction of the mitochondrial respiratory chain (MRC) underlies the pathogenesis of hyperlactatemia associated with highly active antiretroviral therapy (HAART) is scarce.
Miró Meda, José M. (José María), 1956-   +10 more
core   +1 more source

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