Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts
- 7 January 2003
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 301 (1) , 222-224
- https://doi.org/10.1016/s0006-291x(02)03016-4
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndromeHuman Genetics, 2003
- The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyJournal of Medical Genetics, 2003
- In vivo and in organello assessment of OXPHOS activitiesMethods, 2002
- Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiencyPrenatal Diagnosis, 2001
- Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I DeficiencyAmerican Journal of Human Genetics, 2001
- Respiratory chain complex I deficiencyAmerican Journal of Medical Genetics, 2001
- Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive optionsAmerican Journal of Medical Genetics, 2001
- A High Rate (20%–30%) of Parental Consanguinity in Cytochrome-Oxidase DeficiencyAmerican Journal of Human Genetics, 1998
- Biochemical and molecular investigations in respiratory chain deficienciesClinica Chimica Acta; International Journal of Clinical Chemistry, 1994
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976