Thorburn DR - Search Results

1

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.

Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS. Leong DW, et al. Among authors: thorburn dr. J Biol Chem. 2012 Jun 8;287(24):20652-63. doi: 10.1074/jbc.M111.327601. Epub 2012 Apr 25. J Biol Chem. 2012. PMID: 22535952 Free PMC article.

2

Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.

Pitt JJ, Hawkins R, Cleary M, Eggington M, Thorburn DR, Warwick L. Pitt JJ, et al. Among authors: thorburn dr. J Inherit Metab Dis. 1997 Mar;20(1):39-42. doi: 10.1023/a:1005353305705. J Inherit Metab Dis. 1997. PMID: 9061565

3

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Ann Neurol. 2003 Oct;54(4):473-8. doi: 10.1002/ana.10687. Ann Neurol. 2003. PMID: 14520659

4

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. McFarland R, et al. Among authors: thorburn dr. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

5

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

6

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Kirby DM, et al. Among authors: thorburn dr. J Med Genet. 2004 Oct;41(10):784-9. doi: 10.1136/jmg.2004.020537. J Med Genet. 2004. PMID: 15466014 Free PMC article. No abstract available.

7

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Thorburn DR, et al. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):121-8. doi: 10.1016/j.bbabio.2004.08.006. Biochim Biophys Acta. 2004. PMID: 15576043 Free article. Review.

8

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.

McKenzie M, Lazarou M, Thorburn DR, Ryan MT. McKenzie M, et al. Among authors: thorburn dr. J Mol Biol. 2006 Aug 18;361(3):462-9. doi: 10.1016/j.jmb.2006.06.057. Epub 2006 Jul 5. J Mol Biol. 2006. PMID: 16857210

9

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.

van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ. van Werkhoven MA, et al. Among authors: thorburn dr. J Lipid Res. 2006 Oct;47(10):2346-51. doi: 10.1194/jlr.D600024-JLR200. Epub 2006 Jul 27. J Lipid Res. 2006. PMID: 16873891 Free article.

10

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis.

McKenzie M, Lazarou M, Thorburn DR, Ryan MT. McKenzie M, et al. Among authors: thorburn dr. Anal Biochem. 2007 May 15;364(2):128-37. doi: 10.1016/j.ab.2007.02.022. Epub 2007 Feb 24. Anal Biochem. 2007. PMID: 17391635

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