Ryan MT - Search Results

1

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: ryan mt. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

2

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: ryan mt. Ann Neurol. 2003 Oct;54(4):473-8. doi: 10.1002/ana.10687. Ann Neurol. 2003. PMID: 14520659

3

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: ryan mt. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

4

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. Among authors: ryan mt. 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.

5

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.

McKenzie M, Lazarou M, Thorburn DR, Ryan MT. McKenzie M, et al. Among authors: ryan mt. 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

6

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: ryan mt. 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

7

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.

Lazarou M, McKenzie M, Ohtake A, Thorburn DR, Ryan MT. Lazarou M, et al. Among authors: ryan mt. Mol Cell Biol. 2007 Jun;27(12):4228-37. doi: 10.1128/MCB.00074-07. Epub 2007 Apr 16. Mol Cell Biol. 2007. PMID: 17438127 Free PMC article.

8

Assembly of mitochondrial complex I and defects in disease.

Lazarou M, Thorburn DR, Ryan MT, McKenzie M. Lazarou M, et al. Among authors: ryan mt. Biochim Biophys Acta. 2009 Jan;1793(1):78-88. doi: 10.1016/j.bbamcr.2008.04.015. Epub 2008 May 4. Biochim Biophys Acta. 2009. PMID: 18501715 Free article. Review.

9

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Among authors: ryan mt. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.

10

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.

Lazarou M, Smith SM, Thorburn DR, Ryan MT, McKenzie M. Lazarou M, et al. Among authors: ryan mt. FEBS J. 2009 Nov;276(22):6701-13. doi: 10.1111/j.1742-4658.2009.07384.x. Epub 2009 Oct 16. FEBS J. 2009. PMID: 19843159 Free article.

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