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2020

Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I

Formosa, L. E., Muellner-Wong, L., Reljic, B., Sharpe, A. J., Jackson, T. D., Beilharz, T. H., Stojanovski, D., Lazarou, M., Stroud, D. A. & Ryan, M. T., 21 Apr 2020, In : Cell Reports. 31, 3, 14 p., 107541.

Research output: Contribution to journalArticleResearchpeer-review

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The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly

Dibley, M. G., Formosa, L. E., Lyu, B., Reljic, B., McGann, D., Muellner-Wong, L., Kraus, F., Sharpe, A. J., Stroud, D. A. & Ryan, M. T., 1 Jan 2020, In : Molecular & Cellular Proteomics. 19, 1, p. 65-77 13 p.

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6 Citations (Scopus)

The 'mitochondrial contact site and cristae organising system' (MICOS) in health and human disease

Eramo, M. J., Lisnyak, V., Formosa, L. E. & Ryan, M. T., Mar 2020, In : Journal of Biochemistry. 167, 3, p. 243-255 13 p.

Research output: Contribution to journalArticleResearchpeer-review

2019

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Lake, N. J., Formosa, L. E., Stroud, D. A., Ryan, M. T., Calvo, S. E., Mootha, V. K., Morar, B., Procopis, P. G., Christodoulou, J., Compton, A. G. & Thorburn, D. R., 1 Jul 2019, In : Human Mutation. 40, 7, p. 893-898 6 p.

Research output: Contribution to journalArticleResearchpeer-review

1 Citation (Scopus)

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

Kang, Y., Anderson, A. J., Jackson, T. D., Palmer, C. S., De Souza, D. P., Fujihara, K. M., Stait, T., Frazier, A. E., Clemons, N. J., Tull, D., Thorburn, D. R., McConville, M. J., Ryan, M. T., Stroud, D. A. & Stojanovski, D., 4 Nov 2019, In : eLife. 8, 32 p., e48828.

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1 Citation (Scopus)

Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6

Maghool, S., Cooray, N. D. G., Stroud, D. A., Aragão, D., Ryan, M. T. & Maher, M. J., Oct 2019, In : Life Science Alliance. 2, 5, 12 p., e201900458.

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4 Citations (Scopus)
2018

BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis

McArthur, K., Whitehead, L. W., Heddleston, J. M., Li, L., Padman, B. S., Oorschot, V., Geoghegan, N. D., Chappaz, S., Davidson, S., Chin, H. S., Lane, R. M., Dramicanin, M., Saunders, T. L., Sugiana, C., Lessene, R., Osellame, L. D., Chew, T. L., Dewson, G., Lazarou, M., Ramm, G. & 5 others, Lessene, G., Ryan, M. T., Rogers, K. L., Van Delft, M. F. & Kile, B. T., 23 Feb 2018, In : Science. 359, 6378, 12 p., eaao6047.

Research output: Contribution to journalArticleResearchpeer-review

91 Citations (Scopus)

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Alston, C. L., Heidler, J., Dibley, M. G., Kremer, L. S., Taylor, L. S., Fratter, C., French, C. E., Glasgow, R. I. C., Feichtinger, R. G., Delon, I., Pagnamenta, A. T., Dolling, H., Lemonde, H., Aiton, N., Bjørnstad, A., Henneke, L., Gärtner, J., Thiele, H., Tauchmannova, K., Quaghebeur, G. & 11 others, Houstek, J., Sperl, W., Raymond, F. L., Prokisch, H., Mayr, J. A., McFarland, R., Poulton, J., Ryan, M. T., Wittig, I., Henneke, M. & Taylor, R. W., 4 Oct 2018, In : American Journal of Human Genetics. 103, 4, p. 592-601 10 p.

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9 Citations (Scopus)

Building a complex complex: Assembly of mitochondrial respiratory chain complex I

Formosa, L. E., Dibley, M. G., Stroud, D. A. & Ryan, M. T., Apr 2018, In : Seminars in Cell and Developmental Biology. 76, p. 154-162 9 p.

Research output: Contribution to journalArticleOtherpeer-review

27 Citations (Scopus)

Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission

Kamerkar, S. C., Kraus, F., Sharpe, A. J., Pucadyil, T. J. & Ryan, M. T., 7 Dec 2018, In : Nature Communications. 9, 1, 15 p., 5239.

Research output: Contribution to journalArticleResearchpeer-review

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30 Citations (Scopus)

Mitochondrial fission protein Drp1 inhibition promotes cardiac mesodermal differentiation of human pluripotent stem cells

Hoque, A., Sivakumaran, P., Bond, S. T., Ling, N. X. Y., Kong, A. M., Scott, J. W., Bandara, N., Hernández, D., Liu, G. S., Wong, R. C. B., Ryan, M. T., Hausenloy, D. J., Kemp, B. E., Oakhill, J. S., Drew, B. G., Pébay, A. & Lim, S. Y., 5 Mar 2018, In : Cell Death Discovery. 4, 1, 13 p., 39.

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18 Citations (Scopus)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Thompson, K., Mai, N., Oláhová, M., Scialó, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B. J. & 5 others, Bonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N. & Taylor, R. W., 1 Nov 2018, In : EMBO Molecular Medicine. 10, 11, 13 p., e9060.

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13 Citations (Scopus)

VDAC2 enables BAX to mediate apoptosis and limit tumor development

Chin, H. S., Li, M. X., Tan, I. K. L., Ninnis, R. L., Reljic, B., Scicluna, K., Dagley, L. F., Sandow, J. J., Kelly, G. L., Samson, A. L., Chappaz, S., Khaw, S. L., Chang, C., Morokoff, A., Brinkmann, K., Webb, A., Hockings, C., Hall, C. M., Kueh, A. J., Ryan, M. T. & 7 others, Kluck, R. M., Bouillet, P., Herold, M. J., Gray, D. H. D., Huang, D. C. S., van Delft, M. F. & Dewson, G., 26 Nov 2018, In : Nature Communications. 9, 1, 13 p., 4976.

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18 Citations (Scopus)
2017

Identification of new channels by systematic analysis of the mitochondrial outer membrane

Krüger, V., Becker, T., Becker, L., Montilla-Martinez, M., Ellenrieder, L., Vögtle, F. N., Meyer, H. E., Ryan, M. T., Wiedemann, N., Warscheid, B., Pfanner, N., Wagner, R. & Meisinger, C., 6 Nov 2017, In : Journal of Cell Biology. 216, 11, p. 3485-3495 11 p.

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18 Citations (Scopus)

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

Wali, J. A., Galic, S., Tan, C. YR., Gurzov, E. N., Frazier, A. E., Connor, T., Ge, J., Pappas, E. G., Stroud, D., Varanasi, L. C., Selck, C., Ryan, M. T., Thorburn, D. R., Kemp, B. E., Krishnamurthy, B., Kay, T. WH., McGee, S. L. & Thomas, H. E., 20 Oct 2017, In : Cell Death and Differentiation. 25, 1, p. 217-225 9 p.

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3 Citations (Scopus)

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training

Wyckelsma, V. L., Levinger, I., McKenna, M. J., Formosa, L. E., Ryan, M. T., Petersen, A. C., Anderson, M. J. & Murphy, R. M., 1 Jun 2017, In : The Journal of Physiology. 595, 11, p. 3345-3359 15 p.

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex

Kang, Y., Stroud, D. A., Baker, M. J., De Souza, D. P., Frazier, A. E., Liem, M., Tull, D., Mathivanan, S., McConville, M. J., Thorburn, D. R., Ryan, M. T. & Stojanovski, D., 3 Aug 2017, In : Molecular Cell. 67, 3, p. 457-470 14 p.

Research output: Contribution to journalArticleResearchpeer-review

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25 Citations (Scopus)
2016

Accessory subunits are integral for assembly and function of human mitochondrial complex I

Stroud, D. A., Surgenor, E. E., Formosa, L. E., Reljic, B., Frazier, A. E., Dibley, M. G., Osellame, L. D., Stait, T., Beilharz, T. H., Thorburn, D. R., Salim, A. & Ryan, M. T., 6 Oct 2016, In : Nature. 538, 7623, p. 123-126 4 p.

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106 Citations (Scopus)

A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-cell mitochondrial dysfunction in type 2 diabetes

Peiris, H., Duffield, M. D., Fadista, J., Jessup, C. F., Kashmir, V., Genders, A. J., McGee, S. L., Martin, A. M., Saiedi, M., Morton, N., Carter, R., Cousin, M. A., Kokotos, A. C., Oskolkov, N., Volkov, P., Hough, T. A., Fisher, E. M. C., Tybulewicz, V. L. J., Busciglio, J., Coskun, P. E. & 12 others, Becker, A., Belichenko, P. V., Mobley, W. C., Ryan, M. T., Chan, J. Y., Laybutt, D. R., Coates, P. T., Yang, S., Ling, C., Groop, L., Pritchard, M. A. & Keating, D. J., 19 May 2016, In : PLoS Genetics. 12, 5, 24 p., 1006033.

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20 Citations (Scopus)

Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype

Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., Yarham, J. W., He, L., De Paepe, B., Vanlander, A. V., Seneca, S., Feichtinger, R. G., Płoski, R., Rokicki, D. & 11 others, Pronicka, E., Haller, R. G., Van Hove, J. L. K., Bahlo, M., Mayr, J. A., Van Coster, R., Prokisch, H., Wittig, I., Ryan, M. T., Thorburn, D. R. & Taylor, R. W., 7 Jul 2016, In : American Journal of Human Genetics. 99, 1, p. 217-227 11 p.

Research output: Contribution to journalArticleOtherpeer-review

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20 Citations (Scopus)

Cooperative and independent roles of Drp1 adaptors Mff and MiD49/51 in mitochondrial fission

Osellame, L. D., Singh, A. P., Stroud, D. A., Palmer, C. S., Stojanovski, D., Ramachandran, R. & Ryan, M. T., 2016, In : Journal of Cell Science. 129, 11, p. 2170-2181 12 p.

Research output: Contribution to journalArticleResearchpeer-review

99 Citations (Scopus)

Deficiency in apoptosis-inducing factor recapitulates chronic kidney disease via aberrant mitochondrial homeostasis

Coughlan, M. T., Higgins, G. C., Nguyen, T-V., Penfold, S. A., Thallas-Bonke, V., Tan, S. M., Ramm, G., Van Bergen, N. J., Henstridge, D. C., Sourris, K. C., Harcourt, B. E., Trounce, I. A., Robb, P. M., Laskowski, A., McGee, S. L., Genders, A. J., Walder, K., Drew, B. G., Gregorevic, P., Qian, H. & 13 others, Thomas, M. C., Jerums, G., Macisaac, R. J., Skene, A., Power, D. A., Ekinci, E. I., Wijeyeratne, X. W., Gallo, L. A., Herman-Edelstein, M., Ryan, M. T., Cooper, M. E., Thorburn, D. R. & Forbes, J. M., Apr 2016, In : Diabetes. 65, 4, p. 1085-1098 14 p.

Research output: Contribution to journalArticleResearchpeer-review

14 Citations (Scopus)
2015

Analysis of ER-mitochondria contacts using correlative fluorescence microscopy and soft X-ray tomography of mammalian cells

Elgass, K., Smith, E. A., LeGros, M. A., Larabell, C. A. & Ryan, M. T., 2015, In : Journal of Cell Science. 128, 15, p. 2795 - 2804 10 p.

Research output: Contribution to journalArticleResearchpeer-review

40 Citations (Scopus)

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Formosa, L. E., Mimaki, M., Frazier, A. E., McKenzie, M., Stait, T. L., Thorburn, D. R., Stroud, D. A. & Ryan, M. T., 2015, In : Human Molecular Genetics. 24, 10, p. 2952 - 2965 14 p.

Research output: Contribution to journalArticleResearchpeer-review

34 Citations (Scopus)

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

Stroud, D. A., Maher, M. J., Lindau, C., Vogtle, F-N., Frazier, A. E., Surgenor, E. E., Mountford, H., Singh, A. P., Bonas, M., Oeljeklaus, S., Warscheid, B., Meisinger, C., Thorburn, D. R. & Ryan, M. T., 2015, In : Human Molecular Genetics. 24, 19 (Art. No: ddv265), p. 5404 - 5415 12 p.

Research output: Contribution to journalArticleResearchpeer-review

43 Citations (Scopus)

FunRich: An open access standalone functional enrichment and interaction network analysis tool

Pathan, M., Keerthikumar, S., Ang, C-S., Gangoda, L., Quek, C. Y. J., Williamson, N. A., Mouradov, D., Sieber, O. M., Simpson, R. J., Salim, A., Bacic, A., Hill, A. F., Stroud, D. A., Ryan, M. T., Agbinya, J. I., Mariadason, J. M., Burgess, A. W. & Mathivanan, S., 2015, In : Proteomics. 15, 15, p. 2597 - 2601 5 p.

Research output: Contribution to journalArticleResearchpeer-review

419 Citations (Scopus)

Splitting up the powerhouse: structural insights into the mechanism of mitochondrial fission

Richter, V., Singh, A. P., Ryan, M. T. & Osellame, L. D., 2015, In : Cellular and Molecular Life Sciences. 72, 19, p. 3695 - 3707 13 p.

Research output: Contribution to journalArticleResearchpeer-review

25 Citations (Scopus)
2014

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

Lim, S. C., Smith, K. R., Stroud, D. A., Compton, A. G., Tucker, E. J., Dasvarma, A., Gandolfo, L. C., Marum, J. E., McKenzie, M., Peters, H. L., Mowat, D. R., Procopis, P. G., Wilcken, B., Christodoulou, J., Brown, G. K., Ryan, M. T., Bahlo, M. & Thorburn, D. R., 6 Feb 2014, In : American Journal of Human Genetics. 94, 2, p. 209-222 14 p.

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)

Bax targets mitochondria by distinct mechanisms before or during apoptotic cell death: a requirement for VDAC2 or Bak for efficient Bax apoptotic function

Ma, S. B., Nguyen, T. N., Tan, I. L., Ninnis, R. L., Iyer, S., Stroud, D. A., Menard, M-J., Kluck, R. M., Ryan, M. T. & Dewson, G., 1 Dec 2014, In : Cell Death and Differentiation. 21, 12, p. 1925-1935 11 p.

Research output: Contribution to journalArticleResearchpeer-review

65 Citations (Scopus)

Mapping biological composition through quantitative phase and absorption X-ray ptychography

Jones, M. W. M., Elgass, K., Junker, M. D., Luu, M. B., Ryan, M. T., Peele, A. G. & Van Riessen, G. A., 28 Oct 2014, In : Scientific Reports. 4, 4 p., 6796.

Research output: Contribution to journalArticleResearchpeer-review

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7 Citations (Scopus)

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse

Bird, M. J., Wijeyeratne, X. W., Komen, J. C., Laskowski, A., Ryan, M. T., Thorburn, D. R. & Frazier, A. E., 2014, In : Bioscience Reports. 34, 6, p. 1-15 15 p., e00151.

Research output: Contribution to journalArticleResearchpeer-review

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9 Citations (Scopus)

Stalking the mitochondrial ATP synthase: Ina found guilty by association

Stroud, D. A. & Ryan, M. T., 1 Aug 2014, In : The EMBO Journal. 33, 15, p. 1617-1618 2 p.

Research output: Contribution to journalArticleOtherpeer-review

2 Citations (Scopus)

Structural and functional analysis of MiD51, a dynamin receptor required for mitochondrial fission

Richter, V., Palmer, C. S., Osellame, L. D., Singh, A. P., Elgass, K., Stroud, D. A., Sesaki, H., Kvansakul, M. & Ryan, M. T., 17 Feb 2014, In : Journal of Cell Biology. 204, 4, p. 477-486 10 p.

Research output: Contribution to journalArticleResearchpeer-review

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50 Citations (Scopus)
2013

Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission

Palmer, C. S., Elgass, K., Parton, R. G., Osellame, L. D., Stojanovski, D. & Ryan, M. T., 2013, In : The Journal of Biological Chemistry. 288, 38, p. 27584 - 27593 10 p.

Research output: Contribution to journalArticleResearchpeer-review

127 Citations (Scopus)

Assembly of the bak apoptotic pore: A critical role for the bak proteinα6 helix in the multimerization of homodimers during apoptosis

Ma, S., Hockings, C., Anwari, K., Kratina, T., Fennell, S., Lazarou, M., Ryan, M. T., Kluck, R. M. & Dewson, G., 6 Sep 2013, In : The Journal of Biological Chemistry. 288, 36, p. 26027-26038 12 p.

Research output: Contribution to journalArticleResearchpeer-review

50 Citations (Scopus)

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human ndufa9 protein is essential for stabilizing the junction between membrane and matrix arms of complex i

Stroud, D. A., Formosa, L. E., Wijeyeratne, X. W., Nguyen, T. N. & Ryan, M. T., 18 Jan 2013, In : The Journal of Biological Chemistry. 288, 3, p. 1685-1690 6 p.

Research output: Contribution to journalArticleResearchpeer-review

47 Citations (Scopus)

Mitochondria: Organization of respiratory chain complexes becomes cristae-lized

Stroud, D. A. & Ryan, M. T., 4 Nov 2013, In : Current Biology. 23, 21, p. R969-R971 3 p.

Research output: Contribution to journalArticleOtherpeer-review

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2 Citations (Scopus)

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

Murad, N. A. A., Cullen, J. K., McKenzie, M., Ryan, M. T., Thorburn, D. R., Gueven, N., Kobayashi, J., Birrell, G., Yang, J., Dork, T., Becherel, O., Grattan-Smith, P. & Lavin, M. F., 2013, In : Mitochondrion. 13, 3, p. 235 - 245 11 p.

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Tucker, E. J., Wanschers, B. F. J., Szklarczyk, R., Mountford, H. S., Wijeyeratne, X. W., van den Brand, M. A. M., Leenders, A. M., Rodenburg, R. J., Reljić, B., Compton, A. G., Frazier, A. E., Bruno, D. L., Christodoulou, J., Endo, H., Ryan, M. T., Nijtmans, L. G., Huynen, M. A. & Thorburn, D. R., 2013, In : PLoS Genetics. 9, 12, e1004034.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
42 Citations (Scopus)

Recent advances into the understanding of mitochondrial fission

Elgass, K., Pakay, J. L., Ryan, M. T. & Palmer, C. S., 2013, In : Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1833, 1, p. 150 - 161 12 p.

Research output: Contribution to journalArticleResearchpeer-review

157 Citations (Scopus)
2012

Impaired folding of the mitochondrial small TIM chaperones induces clearance by the i-AAA protease

Baker, M. J., Mooga, V. P., Guiard, B., Langer, T., Ryan, M. T. & Stojanovski, D., 14 Dec 2012, In : Journal of Molecular Biology. 424, 5, p. 227-239 13 p.

Research output: Contribution to journalArticleResearchpeer-review

35 Citations (Scopus)

Mitofusins 'bridge' the gap between oxidative stress and mitochondrial hyperfusion

Ryan, M. T. & Stojanovski, D., Oct 2012, In : EMBO Reports. 13, 10, p. 870-871 2 p.

Research output: Contribution to journalArticleOtherpeer-review

6 Citations (Scopus)

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation

Tucker, E., Mimaki, M., Crompton, A., McKenzie, M., Ryan, M. & Thorburn, D., 2012, In : Human Mutation. 33, 2, p. 411 - 418 8 p.

Research output: Contribution to journalArticleResearchpeer-review

44 Citations (Scopus)

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, D., Komen, J. C., Hewitt, C. A., Arnaud, E., McKenzie, M., Phipson, B., Bahlo, M., Laskowski, A., Kinkel, S. A., Davey, G. M., Heath, W. R., Voss, A. K., Zahedi, R. P., Pitt, J., Chrast, R., Sickmann, A., Ryan, M. T., Smyth, G. K., Thorburn, D. R. & Scott, H. S., 2012, In : The Journal of Biological Chemistry. 287, 24, p. 20652 - 20663 12 p.

Research output: Contribution to journalArticleResearchpeer-review

35 Citations (Scopus)

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Ke, B. X., Pepe, S., Grubb, D. R., Komen, J. C., Laskowski, A., Rodda, F. A., Hardman, B. M., Pitt, J. J., Ryan, M. T., Lazarou, M., Koleff, J., Cheung, M. M. H., Smolich, J. J. & Thorburn, D. R., 17 Apr 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 16, p. 6165-6170 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
28 Citations (Scopus)

Understanding mitochondrial complex I assembly in health and disease

Mimaki, M., Wang, X., McKenzie, M., Thorburn, D. & Ryan, M., 2012, In : Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1817, 6, p. 851 - 862 12 p.

Research output: Contribution to journalArticleResearchpeer-review

204 Citations (Scopus)
2011

MiD49 and MiD51, new components of the mitochondrial fission machinery

Palmer, C. S., Osellame, L. D., Laine, D., Koutsopoulos, O. S., Frazier, A. E. & Ryan, M. T., Jun 2011, In : EMBO Reports. 12, 6, p. 565-573 9 p.

Research output: Contribution to journalArticleResearchpeer-review

315 Citations (Scopus)

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Tucker, E., Hershman, S., Kohrer, C., Belcher-Timme, C., Patel, J., Goldberger, O., Christodoulou, J., Silberstein, J., McKenzie, M., Ryan, M., Compton, A., Jaffe, J., Carr, S., Calvo, S., RajBhandary, U., Thorburn, D. & Mootha, V., 2011, In : Cell Metabolism. 14, 3, p. 428 - 434 7 p.

Research output: Contribution to journalArticleResearchpeer-review

95 Citations (Scopus)

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

McKenzie, M., Tucker, E., Compton, A., Lazarou, M., George, C., Thorburn, D. & Ryan, M., 2011, In : Journal of Molecular Biology. 414, 3, p. 413 - 426 14 p.

Research output: Contribution to journalArticleResearchpeer-review

40 Citations (Scopus)
2010

Assembly factors of human mitochondrial complex I and their defects in disease

McKenzie, M. & Ryan, M., 2010, In : IUBMB Life. 62, 7, p. 497 - 502 6 p.

Research output: Contribution to journalArticleResearchpeer-review

97 Citations (Scopus)