Deficiency of mitochondrial ATP synthase of nuclear genetic origin
- 31 December 2006
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 16 (12) , 821-829
- https://doi.org/10.1016/j.nmd.2006.08.008
Abstract
No abstract availableKeywords
Funding Information
- Ministerstvo Školství, Mládeže a Tělovýchovy (1M6837805002, AVOZ50110509, MSM 0021620806)
- Ministerstvo Zdravotnictví Ceské Republiky (NR7790-3)
- Oesterreichische Nationalbank (10131)
This publication has 29 references indexed in Scilit:
- Two components in pathogenic mechanism of mitochondrial ATPase deficiency: Energy deprivation and ROS productionExperimental Gerontology, 2006
- Cardiolipin metabolism and Barth SyndromeProgress in Lipid Research, 2006
- Mitochondrial diseases and ATPase defects of nuclear originBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
- Differential expression of ATPAF1 and ATPAF2 genes encoding F1‐ATPase assembly proteins in mouse tissuesFEBS Letters, 2003
- Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic AciduriaJournal of Child Neurology, 2001
- Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNABiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
- Cardiomyopathy in respiratory chain disorders.Archives of Disease in Childhood, 1995
- The role of the stalk in the coupling mechanism of F1F0‐ATPasesFEBS Letters, 1994
- The Mitochondrial DNA Mutation at 8993 Associated with NARP Slows the Rate of ATP Synthesis in Isolated Lymphoblast MitochondriaBiochemical and Biophysical Research Communications, 1993
- Sequence and organization of the human mitochondrial genomeNature, 1981