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Journal Abstract Search

180 related items for PubMed ID: 22378285

  • 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. PubMed ID: 22378285
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  • 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. PubMed ID: 16950817
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  • 3. A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function.
    Xue L, Chen Y, Tang X, Yao J, Huang H, Wang M, Ye S, Wang M, Guan MX.
    Mitochondrion; 2019 May; 46():370-379. PubMed ID: 30336267
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  • 4. 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. PubMed ID: 21257182
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  • 8. Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations.
    Yang L, Guo Q, Leng J, Wang K, Ding Y.
    J Clin Lab Anal; 2022 Jan 15; 36(1):e24102. PubMed ID: 34811812
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  • 9. In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness.
    Levinger L, Jacobs O, James M.
    Nucleic Acids Res; 2001 Nov 01; 29(21):4334-40. PubMed ID: 11691920
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  • 11. Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.
    Meng F, He Z, Tang X, Zheng J, Jin X, Zhu Y, Ren X, Zhou M, Wang M, Gong S, Mo JQ, Shu Q, Guan MX.
    J Biol Chem; 2018 Mar 02; 293(9):3321-3334. PubMed ID: 29348176
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  • 12. 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 02; 34(9):1260-8. PubMed ID: 23696415
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  • 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 02; 45(1):55-61. PubMed ID: 18178636
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  • 15. 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 02; 14(7):417-20. PubMed ID: 15210164
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  • 16. 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 02; 1842(1):56-64. PubMed ID: 24161539
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  • 17. Mitochondrial tRNA mutations associated with deafness.
    Zheng J, Ji Y, Guan MX.
    Mitochondrion; 2012 May 02; 12(3):406-13. PubMed ID: 22538251
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  • 18. 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 02; 23(12):1735-8. PubMed ID: 25873012
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  • 20. A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
    Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK.
    Mol Genet Metab; 2020 Dec 02; 131(4):398-404. PubMed ID: 33279411
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