197 related articles for article (PubMed ID: 8077184)
1. MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.
Robinson BH
J Bioenerg Biomembr; 1994 Jun; 26(3):311-6. PubMed ID: 8077184
[TBL] [Abstract][Full Text] [Related]
2. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
Tatuch Y; Pagon RA; Vlcek B; Roberts R; Korson M; Robinson BH
Eur J Hum Genet; 1994; 2(1):35-43. PubMed ID: 8044652
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
Vilarinho L; Barbot C; Carrozzo R; Calado E; Tessa A; Dionisi-Vici C; Guimarães A; Santorelli FM
J Inherit Metab Dis; 2001 Dec; 24(8):883-4. PubMed ID: 11916326
[No Abstract] [Full Text] [Related]
4. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Vazquez-Memije ME; Shanske S; Santorelli FM; Kranz-Eble P; Davidson E; DeVivo DC; DiMauro S
J Inherit Metab Dis; 1996; 19(1):43-50. PubMed ID: 8830176
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial medicine--molecular pathology of defective oxidative phosphorylation.
Fosslien E
Ann Clin Lab Sci; 2001 Jan; 31(1):25-67. PubMed ID: 11314862
[TBL] [Abstract][Full Text] [Related]
6. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.
Tatuch Y; Robinson BH
Biochem Biophys Res Commun; 1993 Apr; 192(1):124-8. PubMed ID: 8476414
[TBL] [Abstract][Full Text] [Related]
7. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
Shoffner JM; Fernhoff PM; Krawiecki NS; Caplan DB; Holt PJ; Koontz DA; Takei Y; Newman NJ; Ortiz RG; Polak M
Neurology; 1992 Nov; 42(11):2168-74. PubMed ID: 1436530
[TBL] [Abstract][Full Text] [Related]
8. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
Sgarbi G; Baracca A; Lenaz G; Valentino LM; Carelli V; Solaini G
Biochem J; 2006 May; 395(3):493-500. PubMed ID: 16402916
[TBL] [Abstract][Full Text] [Related]
9. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Santorelli FM; Mak SC; Vazquez-Memije ME; Shanske S; Kranz-Eble P; Jain KD; Bluestone DL; De Vivo DC; DiMauro S
Pediatr Res; 1996 May; 39(5):914-7. PubMed ID: 8726250
[TBL] [Abstract][Full Text] [Related]
10. Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases.
Korzeniewski B; Malgat M; Letellier T; Mazat JP
Biochem J; 2001 Aug; 357(Pt 3):835-42. PubMed ID: 11463355
[TBL] [Abstract][Full Text] [Related]
11. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.
Bonnet C; Kaltimbacher V; Ellouze S; Augustin S; Bénit P; Forster V; Rustin P; Sahel JA; Corral-Debrinski M
Rejuvenation Res; 2007 Jun; 10(2):127-44. PubMed ID: 17518546
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
Uziel G; Moroni I; Lamantea E; Fratta GM; Ciceri E; Carrara F; Zeviani M
J Neurol Neurosurg Psychiatry; 1997 Jul; 63(1):16-22. PubMed ID: 9221962
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial DNA mutations in human degenerative diseases and aging.
Wallace DC; Shoffner JM; Trounce I; Brown MD; Ballinger SW; Corral-Debrinski M; Horton T; Jun AS; Lott MT
Biochim Biophys Acta; 1995 May; 1271(1):141-51. PubMed ID: 7599200
[TBL] [Abstract][Full Text] [Related]
14. Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit.
Gerbitz KD; Gempel K; Brdiczka D
Diabetes; 1996 Feb; 45(2):113-26. PubMed ID: 8549853
[TBL] [Abstract][Full Text] [Related]
15. Assay of mitochondrial ATP synthesis in animal cells.
Manfredi G; Spinazzola A; Checcarelli N; Naini A
Methods Cell Biol; 2001; 65():133-45. PubMed ID: 11381590
[No Abstract] [Full Text] [Related]
16. Mitochondrial myopathies and encephalomyopathies.
Schapira AH; Cock HR
Eur J Clin Invest; 1999 Oct; 29(10):886-98. PubMed ID: 10583431
[TBL] [Abstract][Full Text] [Related]
17. The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D; Ayalon O; Weissman S; Saada A
Biochimie; 2014 May; 100():184-91. PubMed ID: 24012549
[TBL] [Abstract][Full Text] [Related]
18. Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM
Lancet; 1996 Nov; 348(9037):1283-8. PubMed ID: 8909383
[TBL] [Abstract][Full Text] [Related]
19. Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh's syndrome.
Vo TD; Paul Lee WN; Palsson BO
Mol Genet Metab; 2007 May; 91(1):15-22. PubMed ID: 17336115
[TBL] [Abstract][Full Text] [Related]
20. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
D'Aurelio M; Vives-Bauza C; Davidson MM; Manfredi G
Hum Mol Genet; 2010 Jan; 19(2):374-86. PubMed ID: 19875463
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]