Laboratory approach to mitochondrial diseases (Q28192185)

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A González

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C Mugueta

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A Martínez

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I Monreal

Journal of Physiology and Biochemistry

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language of work or name

English

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publication date

September 2001

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published in

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Trichopoliodystrophy. I. Report of a case and biochemical studies

volume

57

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issue

3

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page(s)

267-84

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cites work

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Arsenic toxicity is enzyme specific and its affects on ligation are not caused by the direct inhibition of DNA repair enzymes

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A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

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Effect of lamivudine on morphology and function of mitochondria in patients with chronic hepatitis B.

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Mitochondrial dysfunction in alcoholic patients as assessed by breath analysis

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L-dopa increases nigral production of hydroxyl radicals in vivo: potential L-dopa toxicity?

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Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

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Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death

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Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

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A genetic variation in the 5' flanking region of the UCP3 gene is associated with body mass index in humans in interaction with physical activity

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Human hepatic macrovesicular steatosis: a noninvasive study of mitochondrial ketoisocaproic acid decarboxylation

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Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

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Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

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Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction

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Mitochondrial disorders

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A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

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Characterisation with stable isotopes of the presence of a lag phase in the gastric emptying of liquids

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

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Mitochondrial function reflected by the decarboxylation of [13C]ketoisocaproate is impaired in alcoholics

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12 December 2020

Noninvasive assessment of the effect of xenobiotics on mitochondrial function in human beings: studies with acetylsalicylic acid and ethanol with the use of the carbon 13-labeled ketoisocaproate breath test

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12 December 2020

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12 December 2020

Towards a molecular understanding of adaptive thermogenesis

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"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

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12 December 2020

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12 December 2020

Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies

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12 December 2020

Mitochondrial encephalomyopathies

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Significance of megamitochondria in alcoholic liver disease

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12 December 2020

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.

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12 December 2020

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Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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12 December 2020

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

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12 December 2020

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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UCP1: the only protein able to mediate adaptive non-shivering thermogenesis and metabolic inefficiency.

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Mitochondrial adaptations to obesity-related oxidant stress

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12 December 2020

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

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12 December 2020

Campylobacter pylori detected noninvasively by the 13C-urea breath test

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12 December 2020

Skeletal muscle substrate metabolism

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12 December 2020

Disorders of mitochondria and related metabolism

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12 December 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

12 December 2020

Mitochondrial DNA: does more lead to less?

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12 December 2020

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

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12 December 2020

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The energy substrate switch during development of heart failure: gene regulatory mechanisms (Review)

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12 December 2020

Stereoselective and substrate-dependent inhibition of hepatic mitochondrial β-oxidation and oxidative phosphorylation by the non-steroidal anti-inflammatory drugs ibuprofen, flurbiprofen, and ketorolac

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12 December 2020

Effects of aluminum on activity of krebs cycle enzymes and glutamate dehydrogenase in rat brain homogenate

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12 December 2020

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

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12 December 2020

Regulation of fat/carbohydrate interaction in human skeletal muscle during exercise

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12 December 2020

Impaired mitochondrial function in microvesicular steatosis. Effects of drugs, ethanol, hormones and cytokines

1 reference

12 December 2020

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease

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12 December 2020

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

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12 December 2020

Mitochondrial proton leak: a role for uncoupling proteins 2 and 3?

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12 December 2020

31P magnetic resonance spectroscopy study of phosphocreatine recovery kinetics in skeletal muscle: the issue of intersubject variability

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12 December 2020

L-carnitine therapy in isovaleric acidemia

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12 December 2020

Chronic levodopa administration alters cerebral mitochondrial respiratory chain activity

1 reference

12 December 2020

Phosphorus 31 nuclear magnetic resonance spectroscopy suggests a mitochondrial defect in claudicating skeletal muscle

1 reference

12 December 2020

Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS?

1 reference

12 December 2020

Chloropicrin dechlorination in relation to toxic action

1 reference

12 December 2020

Molecular genetic aspects of human mitochondrial disorders

1 reference

12 December 2020

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

12 December 2020

Assessment of mitochondrial energy coupling in vivo by 13C/31P NMR

1 reference

12 December 2020

Giant mitochondria in the alcoholic liver diseases--their identification, frequency and pathologic significance

1 reference

12 December 2020

The effect of tacrolimus (FK506) on intestinal barrier function and cellular energy production in humans

1 reference

12 December 2020