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How much does a disrupted mitochondrial network influence neuronal dysfunction?

Chrzanowska-Lightowlers ZM, Lightowlers RN.

EMBO Mol Med. 2019 Jan;11(1). pii: e9899. doi: 10.15252/emmm.201809899. No abstract available.


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.


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.


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.


Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.


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.


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.


Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism.

Maus M, Cuk M, Patel B, Lian J, Ouimet M, Kaufmann U, Yang J, Horvath R, Hornig-Do HT, Chrzanowska-Lightowlers ZM, Moore KJ, Cuervo AM, Feske S.

Cell Metab. 2017 Mar 7;25(3):698-712. doi: 10.1016/j.cmet.2016.12.021. Epub 2017 Jan 26.


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.


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.


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.


Autophagy impairment with lysosomal and mitochondrial dysfunction is an important characteristic of oxidative stress-induced senescence.

Tai H, Wang Z, Gong H, Han X, Zhou J, Wang X, Wei X, Ding Y, Huang N, Qin J, Zhang J, Wang S, Gao F, Chrzanowska-Lightowlers ZM, Xiang R, Xiao H.

Autophagy. 2017 Jan 2;13(1):99-113. doi: 10.1080/15548627.2016.1247143. Epub 2016 Oct 28.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria.

Dujeancourt L, Richter R, Chrzanowska-Lightowlers ZM, Bonnefoy N, Herbert CJ.

Mitochondrion. 2013 Nov;13(6):871-80. doi: 10.1016/j.mito.2013.07.115. Epub 2013 Jul 24.


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.


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.


Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.

Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2013 Aug;1832(8):1304-12. doi: 10.1016/j.bbadis.2013.04.014. Epub 2013 Apr 18.


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.


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.


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.


Structure based hypothesis of a mitochondrial ribosome rescue mechanism.

Huynen MA, Duarte I, Chrzanowska-Lightowlers ZM, Nabuurs SB.

Biol Direct. 2012 May 8;7:14. doi: 10.1186/1745-6150-7-14.


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.


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.


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.


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.


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.


Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.


The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW.

Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6.


Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit.

Dennerlein S, Rozanska A, Wydro M, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Biochem J. 2010 Sep 15;430(3):551-8. doi: 10.1042/BJ20100757.


Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA.

Am J Hum Genet. 2010 Jul 9;87(1):115-22. doi: 10.1016/j.ajhg.2010.06.004.


Terminating human mitochondrial protein synthesis: a shift in our thinking.

Lightowlers RN, Chrzanowska-Lightowlers ZM.

RNA Biol. 2010 May-Jun;7(3):282-6. Epub 2010 May 8. Review.


Human mitochondrial mRNAs--like members of all families, similar but different.

Temperley RJ, Wydro M, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1081-5. doi: 10.1016/j.bbabio.2010.02.036. Epub 2010 Mar 6. Review.


Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA.

Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4.


A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome.

Richter R, Rorbach J, Pajak A, Smith PM, Wessels HJ, Huynen MA, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZM.

EMBO J. 2010 Mar 17;29(6):1116-25. doi: 10.1038/emboj.2010.14. Epub 2010 Feb 25.


Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition.

Wydro M, Bobrowicz A, Temperley RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Nucleic Acids Res. 2010 Jun;38(11):3732-42. doi: 10.1093/nar/gkq068. Epub 2010 Feb 9.


Hungry codons promote frameshifting in human mitochondrial ribosomes.

Temperley R, Richter R, Dennerlein S, Lightowlers RN, Chrzanowska-Lightowlers ZM.

Science. 2010 Jan 15;327(5963):301. doi: 10.1126/science.1180674.

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