Journal ArticleDOI
An Evaluation of the Measurement of the Activities of Complexes I-IV in the Respiratory Chain of Human Skeletal Muscle Mitochondria
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TLDR
Assays which measure complexes I to IV in human skeletal muscle mitochondria are evaluated and optimized to provide sensitive and reliable diagnostic techniques, particularly in situations where a partial interruption at a single complex needs to identified.About:
This article is published in Biochemical Medicine and Metabolic Biology.The article was published on 1994-02-01. It has received 277 citations till now. The article focuses on the topics: Respiratory chain & Coenzyme Q – cytochrome c reductase.read more
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Journal ArticleDOI
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Shamima Rahman,R. B. Blok,H.-H. M. Dahl,David M. Danks,Denise M. Kirby,Chung Wo Chow,John Christodoulou,David R. Thorburn +7 more
TL;DR: The etiology of Leigh syndrome is investigated in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features, and no strong correlation between the clinical features and basic defects is found.
Journal ArticleDOI
Diagnostic criteria for respiratory chain disorders in adults and children
TL;DR: The authors modified the adult RC diagnostic criteria to allow for pediatric clinical and histologic features and for more sensitive coding of RC enzyme and functional studies, which appear to improve the sensitivity of the adult criteria.
Book ChapterDOI
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.
TL;DR: It is concluded that accurate biochemical investigation is required for determining the site and severity of the defect along with an understanding of the control that each individual complex has on overall substrate oxidation.
Book ChapterDOI
Biochemical assays of respiratory chain complex activity.
TL;DR: There can be considerable loss of RC enzyme activity postmortem, particularly in liver, but the observations suggest that muscle collected and frozen at -70°C within 6 h of death and liver within 2 h remain suitable for RC enzyme analysis.
Journal ArticleDOI
Mitochondrial function and morphology are impaired in parkin mutant fibroblasts
Heather Mortiboys,Kelly Jean Thomas,Werner J.H. Koopman,Stefanie Klaffke,Patrick M. Abou-Sleiman,Simon E. Olpin,Nicholas W. Wood,Peter H.G.M. Willems,Jan A.M. Smeitink,Mark R. Cookson,Oliver Bandmann +10 more
TL;DR: The aim of this study was to determine mitochondrial function and morphology in parkin‐mutant patients and to investigate whether pharmacological rescue of impaired mitochondrial function may be possible in Parkin‐Mutant human tissue.