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Items: 1 to 50 of 180

1.

Advances in methods for reducing mitochondrial DNA disease by replacing or manipulating the mitochondrial genome.

Rai PK, Craven L, Hoogewijs K, Russell OM, Lightowlers RN.

Essays Biochem. 2018 Jul 20;62(3):455-465. doi: 10.1042/EBC20170113. Print 2018 Jul 20. Review.

PMID:
29950320
2.

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN.

Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080.

3.

Using mitoribosomal profiling to investigate human mitochondrial translation.

Gao F, Wesolowska M, Agami R, Rooijers K, Loayza-Puch F, Lawless C, Lightowlers RN, Chrzanowska-Lightowlers ZMA.

Wellcome Open Res. 2017 Dec 11;2:116. doi: 10.12688/wellcomeopenres.13119.2. eCollection 2017.

4.

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo.

Russell OM, Fruh I, Rai PK, Marcellin D, Doll T, Reeve A, Germain M, Bastien J, Rygiel KA, Cerino R, Sailer AW, Lako M, Taylor RW, Mueller M, Lightowlers RN, Turnbull DM, Helliwell SB.

Sci Rep. 2018 Jan 29;8(1):1799. doi: 10.1038/s41598-018-20064-2.

5.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

6.

The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome.

Rozanska A, Richter-Dennerlein R, Rorbach J, Gao F, Lewis RJ, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Biochem J. 2017 Jun 13;474(13):2145-2158. doi: 10.1042/BCJ20170256.

7.

ClickIn: a flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives.

Hoogewijs K, James AM, Smith RA, Abendroth F, Gait MJ, Murphy MP, Lightowlers RN.

Interface Focus. 2017 Apr 6;7(2):20160117. doi: 10.1098/rsfs.2016.0117.

8.

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules.

Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou JC.

J Biol Chem. 2017 Mar 17;292(11):4519-4532. doi: 10.1074/jbc.M116.771105. Epub 2017 Jan 12.

9.

Human mitochondrial nucleases.

Bruni F, Lightowlers RN, Chrzanowska-Lightowlers ZM.

FEBS J. 2017 Jun;284(12):1767-1777. doi: 10.1111/febs.13981. Epub 2017 Feb 1. Review.

10.

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.

11.

Cl-out is a novel cooperative optogenetic tool for extruding chloride from neurons.

Alfonsa H, Lakey JH, Lightowlers RN, Trevelyan AJ.

Nat Commun. 2016 Nov 17;7:13495. doi: 10.1038/ncomms13495.

12.

Human mitochondrial ribosomes can switch their structural RNA composition.

Rorbach J, Gao F, Powell CA, D'Souza A, Lightowlers RN, Minczuk M, Chrzanowska-Lightowlers ZM.

Proc Natl Acad Sci U S A. 2016 Oct 25;113(43):12198-12201. Epub 2016 Oct 11.

13.

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW.

J Inherit Metab Dis. 2017 Jan;40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30.

14.

The process of mammalian mitochondrial protein synthesis.

Mai N, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Cell Tissue Res. 2017 Jan;367(1):5-20. doi: 10.1007/s00441-016-2456-0. Epub 2016 Jul 14. Review.

15.

SLIRP stabilizes LRPPRC via an RRM-PPR protein interface.

Spåhr H, Rozanska A, Li X, Atanassov I, Lightowlers RN, Chrzanowska-Lightowlers ZM, Rackham O, Larsson NG.

Nucleic Acids Res. 2016 Aug 19;44(14):6868-82. doi: 10.1093/nar/gkw575. Epub 2016 Jun 28.

16.
17.

Assessing the Delivery of Molecules to the Mitochondrial Matrix Using Click Chemistry.

Hoogewijs K, James AM, Smith RA, Gait MJ, Murphy MP, Lightowlers RN.

Chembiochem. 2016 Jul 15;17(14):1312-6. doi: 10.1002/cbic.201600188. Epub 2016 May 25.

18.

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia.

Russell OM, Lightowlers RN, Turnbull DM.

Mol Cell. 2016 Apr 7;62(1):5-6. doi: 10.1016/j.molcel.2016.03.027.

19.

Potential compounds for the treatment of mitochondrial disease.

Rai PK, Russell OM, Lightowlers RN, Turnbull DM.

Br Med Bull. 2015;116:5-18. doi: 10.1093/bmb/ldv046. Epub 2015 Nov 20. Review.

PMID:
26590387
20.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW.

Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27.

21.

Mutations causing mitochondrial disease: What is new and what challenges remain?

Lightowlers RN, Taylor RW, Turnbull DM.

Science. 2015 Sep 25;349(6255):1494-9. doi: 10.1126/science.aac7516. Epub 2015 Sep 24. Review.

PMID:
26404827
22.

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.

Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A.

Mitochondrion. 2015 Nov;25:17-27. doi: 10.1016/j.mito.2015.08.004. Epub 2015 Sep 5.

23.

Response to "Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria".

Chrzanowska-Lightowlers ZM, Lightowlers RN.

PLoS Genet. 2015 Jun 18;11(6):e1005227. doi: 10.1371/journal.pgen.1005227. eCollection 2015 Jun. No abstract available.

24.

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW.

Eur J Hum Genet. 2015 Jul;23(7):935-9. doi: 10.1038/ejhg.2014.214. Epub 2014 Oct 8.

25.

Overcoming stalled translation in human mitochondria.

Wesolowska MT, Richter-Dennerlein R, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Front Microbiol. 2014 Jul 18;5:374. doi: 10.3389/fmicb.2014.00374. eCollection 2014.

26.

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Wilson WC, Hornig-Do HT, Bruni F, Chang JH, Jourdain AA, Martinou JC, Falkenberg M, Spåhr H, Larsson NG, Lewis RJ, Hewitt L, Baslé A, Cross HE, Tong L, Lebel RR, Crosby AH, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Hum Mol Genet. 2014 Dec 1;23(23):6345-55. doi: 10.1093/hmg/ddu352. Epub 2014 Jul 9.

27.

Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.

Lightowlers RN, Rozanska A, Chrzanowska-Lightowlers ZM.

FEBS Lett. 2014 Aug 1;588(15):2496-503. doi: 10.1016/j.febslet.2014.05.054. Epub 2014 Jun 6. Review.

28.

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

Lightowlers RN, Chrzanowska-Lightowlers ZM.

EMBO Mol Med. 2014 Jun;6(6):705-7. doi: 10.15252/emmm.201404179. Epub 2014 Apr 6.

29.

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations.

Hornig-Do HT, Montanari A, Rozanska A, Tuppen HA, Almalki AA, Abg-Kamaludin DP, Frontali L, Francisci S, Lightowlers RN, Chrzanowska-Lightowlers ZM.

EMBO Mol Med. 2014 Feb;6(2):183-93. doi: 10.1002/emmm.201303202. Epub 2014 Jan 10.

30.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2014 Jan;1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24.

31.

The role of TDP1 and APTX in mitochondrial DNA repair.

Meagher M, Lightowlers RN.

Biochimie. 2014 May;100:121-4. doi: 10.1016/j.biochi.2013.10.011. Epub 2013 Oct 22. Review.

32.

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A.

Hum Mol Genet. 2014 Feb 15;23(4):949-67. doi: 10.1093/hmg/ddt490. Epub 2013 Oct 2.

33.

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

Wessels HJ, Vogel RO, Lightowlers RN, Spelbrink JN, Rodenburg RJ, van den Heuvel LP, van Gool AJ, Gloerich J, Smeitink JA, Nijtmans LG.

PLoS One. 2013 Jul 23;8(7):e68340. doi: 10.1371/journal.pone.0068340. Print 2013.

34.

REXO2 is an oligoribonuclease active in human mitochondria.

Bruni F, Gramegna P, Oliveira JM, Lightowlers RN, Chrzanowska-Lightowlers ZM.

PLoS One. 2013 May 31;8(5):e64670. doi: 10.1371/journal.pone.0064670. Print 2013.

35.

Human pentatricopeptide proteins: only a few and what do they do?

Lightowlers RN, Chrzanowska-Lightowlers ZM.

RNA Biol. 2013;10(9):1433-8. doi: 10.4161/rna.24770. Epub 2013 Apr 23. Review.

36.

GRSF1 regulates RNA processing in mitochondrial RNA granules.

Jourdain AA, Koppen M, Wydro M, Rodley CD, Lightowlers RN, Chrzanowska-Lightowlers ZM, Martinou JC.

Cell Metab. 2013 Mar 5;17(3):399-410. doi: 10.1016/j.cmet.2013.02.005.

37.

Exploring our origins--the importance of OriL in mtDNA maintenance and replication.

Lightowlers RN, Chrzanowska-Lightowlers ZM.

EMBO Rep. 2012 Dec;13(12):1038-9. doi: 10.1038/embor.2012.175. Epub 2012 Nov 13. No abstract available.

38.

The mystery of mitochondrial RNases.

Bruni F, Gramegna P, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Biochem Soc Trans. 2012 Aug;40(4):865-9. doi: 10.1042/BST20120022. Review.

PMID:
22817749
39.

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.

Wanschers BF, Szklarczyk R, Pajak A, van den Brand MA, Gloerich J, Rodenburg RJ, Lightowlers RN, Nijtmans LG, Huynen MA.

Nucleic Acids Res. 2012 May;40(9):4040-51. doi: 10.1093/nar/gkr1271. Epub 2012 Jan 11.

40.

Recombinant human MDM2 oncoprotein shows sequence composition selectivity for binding to both RNA and DNA.

Challen C, Anderson JJ, Chrzanowska-Lightowlers ZM, Lightowlers RN, Lunec J.

Int J Oncol. 2012 Mar;40(3):851-9. doi: 10.3892/ijo.2011.1267. Epub 2011 Nov 21.

PMID:
22108807
41.

Termination of protein synthesis in mammalian mitochondria.

Chrzanowska-Lightowlers ZM, Pajak A, Lightowlers RN.

J Biol Chem. 2011 Oct 7;286(40):34479-85. doi: 10.1074/jbc.R111.290585. Epub 2011 Aug 26. Review.

42.

Designing an organellar postal service: delivery of macromolecules to mitochondria in intact cells.

Bruni F, Lightowlers RN.

Mol Ther. 2011 Aug;19(8):1404-5. doi: 10.1038/mt.2011.139. No abstract available.

43.

DNA delivery to mitochondria: sequence specificity and energy enhancement.

Ibrahim N, Handa H, Cosset A, Koulintchenko M, Konstantinov Y, Lightowlers RN, Dietrich A, Weber-Lotfi F.

Pharm Res. 2011 Nov;28(11):2871-82. doi: 10.1007/s11095-011-0516-4. Epub 2011 Jul 12.

PMID:
21748538
44.

Mitochondrial transfection for studying organellar DNA repair, genome maintenance and aging.

Mileshina D, Ibrahim N, Boesch P, Lightowlers RN, Dietrich A, Weber-Lotfi F.

Mech Ageing Dev. 2011 Aug;132(8-9):412-23. doi: 10.1016/j.mad.2011.05.002. Epub 2011 May 27. Review.

PMID:
21645537
45.

Mitochondrial transformation: time for concerted action.

Lightowlers RN.

EMBO Rep. 2011 Jun;12(6):480-1. doi: 10.1038/embor.2011.93. No abstract available.

46.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R.

Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17.

47.

NOA1 is an essential GTPase required for mitochondrial protein synthesis.

Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S.

Mol Biol Cell. 2011 Jan 1;22(1):1-11. doi: 10.1091/mbc.E10-07-0643. Epub 2010 Nov 30.

48.

Translation termination in human mitochondrial ribosomes.

Richter R, Pajak A, Dennerlein S, Rozanska A, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Biochem Soc Trans. 2010 Dec;38(6):1523-6. doi: 10.1042/BST0381523. Review.

PMID:
21118119
49.

Could successful (mitochondrial) networking help prevent Huntington's disease?

Oliveira JM, Lightowlers RN.

EMBO Mol Med. 2010 Dec;2(12):487-9. doi: 10.1002/emmm.201000104.

50.

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25-27th June 2010, Naarden, The Netherlands.

Chrzanowska-Lightowlers ZM, Horvath R, Lightowlers RN.

Neuromuscul Disord. 2011 Feb;21(2):142-7. doi: 10.1016/j.nmd.2010.10.005. Epub 2010 Dec 15. No abstract available.

PMID:
21111623

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