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Uncovering the link between ATP synthase and the TCA cycle by crosslinking mass spectrometry

Pérez Pañeda L, Misic J, Kadavá T, Larsson N, Heck AJ.   +4 more
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Mitochondrial Encephalomyopathies

Neurologic Clinics, 1990
The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation. Therefore, attempts at classification have generated some controversy.
S, DiMauro, E, Bonilla, A, Lombes, S, Shanske, C, Minetti, C T, Moraes   +5 more
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Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype [PDF]

Biochimica Et Biophysica Acta - Bioenergetics, 1999
Over the past decade a large body of evidence has accumulated implicating defects of human mitochondrial DNA in the pathogenesis of a group of disorders known collectively as the mitochondrial encephalomyopathies.
Michael Hanna, J A Morgan-Hughes
exaly   +2 more sources

Mitochondrial encephalomyopathy

2023
Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a surprisingly frequent cause of central and peripheral nervous system pathology. Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by
Ng YS, McFarland R
openaire   +3 more sources

Mitochondrial Encephalomyopathies

Neurologic Clinics, 1988
Mitochondrial encephalomyopathies are neurodegenerative disorders characterized by ragged-red myopathy and encephalopathy, which are recognized with increasing frequency. This article presents the clinical features; pertinent historical, biochemical, and genetic aspects; evaluation; and treatment of mitochondrial encephalomyopathies of childhood and ...
P L, Peterson, M E, Martens, C P, Lee
exaly   +3 more sources

Mitochondrial Encephalomyopathies☆

2009
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. We owe to Luft et al. (1962) the first description of this type of diseases.
A, Lombes, E, Bonilla, S, Dimauro
openaire   +2 more sources

Autophagy and Mitochondrial Encephalomyopathies

2020
Mitochondrial encephalomyopathies are a group of disorders affecting skeletal muscles and brain. Although the symptoms vary among these disorders, mitochondrial DNA mutation or loss is the common characteristic. The abnormality of mitochondrial genome usually causes the dysfunction of mitochondrial respiratory and even mitochondrial damage.
Xiangnan, Zhang, Yanrong, Zheng, Zhong, Chen   +2 more
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Mitochondrial encephalomyopathies: an update

Neuromuscular Disorders, 2005
A genetic classification of the mitochondrial encephalomyopathies includes disorders due to defects of mitochondrial DNA (mtDNA) and disorders due to defects of nuclear DNA (nDNA). Recent progress in mtDNA-related diseases includes: (i) new pathogenic mutations in protein-coding genes, especially those encoding subunits of complex I (ND genes); (ii ...
Salvatore, DiMauro, Michio, Hirano
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Mitochondrial myopathies and encephalomyopathies

European Journal of Clinical Investigation, 1999
Defects of mitochondrial metabolism result in a wide variety of human disorders, which can present at any time from infancy to late adulthood and involve virtually any tissue either alone or in combination. Abnormalities of the electron transport and oxidative phosphorylation (OXPHOS) system are probably the most common cause of mitochondrial diseases.
A H, Schapira, H R, Cock
openaire   +2 more sources