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Ryan Laboratory
Department of Biochemistry
Publications
Next Generation Sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR.
Hum Mutat. 2011 Nov 9. doi: 10.1002/humu.21654. [Epub ahead of print]
Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1.
McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT.
J Mol Biol. 2011 Dec 2;414(3):413-26. Epub 2011 Oct 14.
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT.
Biochim Biophys Acta. 2011 Sep 2. [Epub ahead of print]
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK.
Cell Metab. 2011 Sep 7;14(3):428-34.
The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery.
Palmer CS, Osellame LD, Stojanovski D, Ryan MT.
Cell Signal. 2011 Oct;23(10):1534-45. Epub 2011 Jun 13. Review.
MiD49 and MiD51, new components of the mitochondrial fission machinery.
Palmer CS, Osellame LD, Laine D, Koutsopoulos OS, Frazier AE, Ryan MT.
EMBO Rep. 2011 Jun;12(6):565-73. Epub 2011 Apr 21.
Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor.
Lazarou M, Stojanovski D, Frazier AE, Kotevski A, Dewson G, Craigen WJ, Kluck RM, Vaux DL, Ryan MT.
J Biol Chem. 2010 Nov 19;285(47):36876-83.
Mitochondrial protein import machineries and lipids: A functional connection.
Gebert N, Ryan MT, Pfanner N, Wiedemann N, Stojanovski D. Biochim Biophys Acta. 2010 Aug 7. [Epub ahead of print]
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.
Am J Hum Genet. 2010 Jul 9;87(1):52-9.
Assembly factors of human mitochondrial complex I and their defects in disease.
Mckenzie M, Ryan MT.
IUBMB Life. 2010 Jul;62(7):497-502.
Human Miltons associate with mitochondria and induce microtubule-dependent remodeling of mitochondrial networks.
Koutsopoulos OS, Laine D, Osellame L, Chudakov DM, Parton RG, Frazier AE, Ryan MT.
Biochim Biophys Acta. 2010 May;1803(5):564-74. Epub 2010 Mar 15.
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.
Gebert N, Joshi AS, Kutik S, Becker T, McKenzie M, Guan XL, Mooga VP, Stroud DA, Kulkarni G, Wenk MR, Rehling P, Meisinger C, Ryan MT, Wiedemann N, Greenberg ML, Pfanner N.
Curr Biol. 2009 Dec 29;19(24):2133-9
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. FEBS J. 2009 276(22): 6427 - 6824
Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear and mitochondrial encoded subunits.
McKenzie M, Lazarou M, Ryan MT. Methods Enzymol. 2009. 456:321-39.
Assembly of mitochondrial complex I and defects in disease.
Lazarou M, Thorburn DR, Ryan MT, McKenzie M. Biochim Biophys Acta. 2009 1793(1):78-88.
Structural and functional requirements for activity of the Tim9-Tim10 complex in mitochondrial protein import.
Baker MJ, Webb CT, Stroud DA, Palmer CS, Frazier AE, Guiard B, Chacinska A, Gulbis JM, Ryan MT. Mol. Biol. Cell. 2009 20(3):769-79. Epub 2008 Nov 26.
Structural and functional requirements for activity of the Tim9-Tim10 complex in mitochondrial protein import.
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. Am J Hum Genet. 2008 83(4):468-78.
Mitochondrial protein import: precursor oxidation in a ternary complex with disulfide carrier and sulfhydryl oxidase.
Stojanovski D, Milenkovic D, Müller JM, Gabriel K, Schulze-Specking A, Baker MJ, Ryan MT, Guiard B, Pfanner N, Chacinska A. J Cell Biol. 2008 183(2):195-202.
Mitochondrial protein-import machinery: correlating structure with function.
Baker MJ, Frazier AE, Gulbis JM, Ryan MT. Trends Cell Biol. 2007 17(9):456-64. Review.
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. EMBO J. 2007 26(13):3227-37.
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. Mol Cell Biol. 2007 27(12):4228-37.
Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis.
McKenzie M, Lazarou M, Thorburn DR, Ryan MT. Anal Biochem. 2007 364(2):128-37.
Mitochondrial-nuclear communications.
Ryan MT, Hoogenraad NJ. Annu Rev Biochem. 2007;76:701-22. Review.
Mitochondrial morphology and distribution in mammalian cells.
Frazier AE, Kiu C, Stojanovski D, Hoogenraad NJ, Ryan MT. Biol Chem. 2006 387(12):1551-8. Review.
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
McKenzie M, Lazarou M, Thorburn DR, Ryan MT. J Mol Biol. 2006 361(3):462-9.
Mdm38 interacts with ribosomes and is a component of the mitochondrial protein export machinery.
Frazier AE, Taylor RD, Mick DU, Warscheid B, Stoepel N, Meyer HE, Ryan MT, Guiard B, Rehling P. J Cell Biol. 2006 172(4):553-64.
Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller.
Webb CT, Gorman MA, Lazarou M, Ryan MT, Gulbis JM. Mol Cell. 2006 21(1):123-33.
Essential role of Isd11 in mitochondrial iron-sulfur cluster synthesis on Isu scaffold proteins.
Wiedemann N, Urzica E, Guiard B, Müller H, Lohaus C, Meyer HE, Ryan MT, Meisinger C, Mühlenhoff U, Lill R, Pfanner N. EMBO J. 2006 25(1):184-95.
Dissection of the mitochondrial import and assembly pathway for human Tom40.
Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT. J Biol Chem. 2005 280(12):11535-43.
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.
Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT.
Biochim Biophys Acta. 2004 1659(2-3):121-8. Review.
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. J Med Genet. 2004 41(10):784-9.
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. J Clin Invest. 2004 114(6):837-45.
Chaperones: inserting beta barrels into membranes.
Ryan MT. Curr Biol. 2004 14(5):R207-9. Review.
Levels of human Fis1 at the mitochondrial outer membrane regulate mitochondrial morphology.
Stojanovski D, Koutsopoulos OS, Okamoto K, Ryan MT. J Cell Sci. 2004 117(Pt 7):1201-10.
Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations.
Culvenor JG, Ilaya NT, Ryan MT, Canterford L, Hoke DE, Williamson NA, McLean CA, Masters CL, Evin G. Eur J Biochem. 2004 271(2):375-85.
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. Ann Neurol. 2004 55(1):58-64.
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. Ann Neurol. 2003 54(4):473-8.
Isolation and characterization of an IgNAR variable domain specific for the human mitochondrial translocase receptor Tom70.
Nuttall SD, Krishnan UV, Doughty L, Pearson K, Ryan MT, Hoogenraad NJ, Hattarki M, Carmichael JA, Irving RA, Hudson PJ. Eur J Biochem. 2003 270(17):3543-54.
Machinery for protein sorting and assembly in the mitochondrial outer membrane.
Wiedemann N, Kozjak V, Chacinska A, Schönfisch B, Rospert S, Ryan MT, Pfanner N, Meisinger C. Nature. 2003 424(6948):565-71.
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