Chrzanowska-Lightowlers ZM - Search Results

1

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. Oláhová M, et al. Eur J Hum Genet. 2015 Jul;23(7):935-9. doi: 10.1038/ejhg.2014.214. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293719 Free PMC article.

2

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.

Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZM, Dong L, Figlewicz DA, Shaw PJ. Menzies FM, et al. Brain. 2002 Jul;125(Pt 7):1522-33. doi: 10.1093/brain/awf167. Brain. 2002. PMID: 12077002

3

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Chrzanowska-Lightowlers ZM, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. Deschauer M, et al. Mol Genet Metab. 2003 Jun;79(2):124-8. doi: 10.1016/s1096-7192(03)00067-2. Mol Genet Metab. 2003. PMID: 12809643

4

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

Temperley RJ, Seneca SH, Tonska K, Bartnik E, Bindoff LA, Lightowlers RN, Chrzanowska-Lightowlers ZM. Temperley RJ, et al. Hum Mol Genet. 2003 Sep 15;12(18):2341-8. doi: 10.1093/hmg/ddg238. Epub 2003 Jul 22. Hum Mol Genet. 2003. PMID: 12915481

5

Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons.

Chrzanowska-Lightowlers ZM, Temperley RJ, Smith PM, Seneca SH, Lightowlers RN. Chrzanowska-Lightowlers ZM, et al. Biochem J. 2004 Feb 1;377(Pt 3):725-31. doi: 10.1042/BJ20031556. Biochem J. 2004. PMID: 14585098 Free PMC article.

6

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. Maniura-Weber K, et al. Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185. Eur J Hum Genet. 2004. PMID: 15054399

7

Messenger RNA stability in mitochondria: different means to an end.

Gagliardi D, Stepien PP, Temperley RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM. Gagliardi D, et al. Trends Genet. 2004 Jun;20(6):260-7. doi: 10.1016/j.tig.2004.04.006. Trends Genet. 2004. PMID: 15145579 Review.

8

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZM, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Bidooki S, et al. Neuromuscul Disord. 2004 Jul;14(7):417-20. doi: 10.1016/j.nmd.2004.03.004. Neuromuscul Disord. 2004. PMID: 15210164

9

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F, Chrzanowska-Lightowlers ZM, Lightowlers RN, Martin RP, Tarassov I. Kolesnikova OA, et al. Hum Mol Genet. 2004 Oct 15;13(20):2519-34. doi: 10.1093/hmg/ddh267. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317755

10

Serum-deprivation stimulates cap-binding by PARN at the expense of eIF4E, consistent with the observed decrease in mRNA stability.

Seal R, Temperley R, Wilusz J, Lightowlers RN, Chrzanowska-Lightowlers ZM. Seal R, et al. Nucleic Acids Res. 2005 Jan 14;33(1):376-87. doi: 10.1093/nar/gki169. Print 2005. Nucleic Acids Res. 2005. PMID: 15653638 Free PMC article.

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