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Items: 1 to 20 of 144

1.

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R.

Eur J Hum Genet. 2012 Aug;20(8):897-904. doi: 10.1038/ejhg.2012.44. Epub 2012 Feb 29. Erratum in: Eur J Hum Genet. 2012 Aug;20(8):910.

2.

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency.

Wong LJ, Yim D, Bai RK, Kwon H, Vacek MM, Zane J, Hoppel CL, Kerr DS.

J Med Genet. 2006 Sep;43(9):e46.

3.

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, von Kleist-Retzow JC.

Nucleic Acids Res. 2005 Sep 30;33(17):5647-58. Print 2005.

4.

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M.

Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28.

5.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

Cardaioli E, Malfatti E, Da Pozzo P, Gallus GN, Carluccio MA, Rufa A, Volpi N, Dotti MT, Federico A.

J Neurol Sci. 2011 Apr 15;303(1-2):142-5. doi: 10.1016/j.jns.2010.12.020. Epub 2011 Jan 22.

PMID:
21257182
6.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA.

Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4.

7.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9.

8.

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, Hammans SR, Turnbull DM, McFarland R, Taylor RW.

Hum Mutat. 2013 Sep;34(9):1260-8. doi: 10.1002/humu.22358.

9.

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.

10.

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.

Neuromuscul Disord. 2004 Jul;14(7):417-20.

PMID:
15210164
11.

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW.

Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15.

13.

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW.

J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185.

PMID:
18178636
14.

Mitochondrial tRNA mutations associated with deafness.

Zheng J, Ji Y, Guan MX.

Mitochondrion. 2012 May;12(3):406-13. doi: 10.1016/j.mito.2012.04.001. Epub 2012 Apr 16.

PMID:
22538251
15.

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.

Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX.

Nucleic Acids Res. 2004 Feb 11;32(3):867-77. Print 2004.

16.

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ.

Am J Med Genet A. 2006 Oct 15;140(20):2216-22.

PMID:
16955414
17.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A.

Brain. 2001 May;124(Pt 5):984-94.

PMID:
11335700
18.

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

Biosci Rep. 2008 Apr;28(2):89-96. doi: 10.1042/BSR20080004.

PMID:
18384291
19.

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

Götz A, Isohanni P, Liljeström B, Rummukainen J, Nikolajev K, Herrgård E, Marjavaara S, Suomalainen A.

Pediatr Res. 2012 Jul;72(1):90-4. doi: 10.1038/pr.2012.43. Epub 2012 Mar 27.

PMID:
22453297
20.

The effect on mitochondrial function of the tRNA Ser(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness.

Hyslop SJ, James AM, Maw M, Fischel-Ghodsian N, Murphy MP.

Biochem Mol Biol Int. 1997 Jul;42(3):567-75.

PMID:
9247714

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