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Items: 11


OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW.

EMBO Mol Med. 2018 Nov;10(11). pii: e9060. doi: 10.15252/emmm.201809060.


Mitochondrial OXPHOS complex assembly lines.

Formosa LE, Ryan MT.

Nat Cell Biol. 2018 May;20(5):511-513. doi: 10.1038/s41556-018-0098-z. No abstract available.


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

Formosa LE, Dibley MG, Stroud DA, Ryan MT.

Semin Cell Dev Biol. 2018 Apr;76:154-162. doi: 10.1016/j.semcdb.2017.08.011. Epub 2017 Aug 7. Review.


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

Wyckelsma VL, Levinger I, McKenna MJ, Formosa LE, Ryan MT, Petersen AC, Anderson MJ, Murphy RM.

J Physiol. 2017 Jun 1;595(11):3345-3359. doi: 10.1113/JP273950. Epub 2017 Apr 23.


Mitochondrial fusion: Reaching the end of mitofusin's tether.

Formosa LE, Ryan MT.

J Cell Biol. 2016 Dec 5;215(5):597-598. Epub 2016 Nov 23.


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

Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A, Ryan MT.

Nature. 2016 Oct 6;538(7623):123-126. doi: 10.1038/nature19754. Epub 2016 Sep 14.


Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.


Translation and Assembly of Radiolabeled Mitochondrial DNA-Encoded Protein Subunits from Cultured Cells and Isolated Mitochondria.

Formosa LE, Hofer A, Tischner C, Wenz T, Ryan MT.

Methods Mol Biol. 2016;1351:115-29. doi: 10.1007/978-1-4939-3040-1_9.


A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS Capacity.

Yeo JH, Skinner JP, Bird MJ, Formosa LE, Zhang JG, Kluck RM, Belz GT, Chong MM.

PLoS One. 2015 Jul 29;10(7):e0134326. doi: 10.1371/journal.pone.0134326. eCollection 2015.


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

Formosa LE, Mimaki M, Frazier AE, McKenzie M, Stait TL, Thorburn DR, Stroud DA, Ryan MT.

Hum Mol Genet. 2015 May 15;24(10):2952-65. doi: 10.1093/hmg/ddv058. Epub 2015 Feb 12.


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 DA, Formosa LE, Wijeyeratne XW, Nguyen TN, Ryan MT.

J Biol Chem. 2013 Jan 18;288(3):1685-90. doi: 10.1074/jbc.C112.436766. Epub 2012 Dec 5.

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