These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

340 related items for PubMed ID: 24161539

  • 1. 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. PubMed ID: 24161539
    [Abstract] [Full Text] [Related]

  • 2. Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation.
    Gong S, Wang X, Meng F, Cui L, Yi Q, Zhao Q, Cang X, Cai Z, Mo JQ, Liang Y, Guan MX.
    J Biol Chem; 2020 Jan 24; 295(4):940-954. PubMed ID: 31819004
    [Abstract] [Full Text] [Related]

  • 3. New insights into the phenotype of FARS2 deficiency.
    Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R.
    Mol Genet Metab; 2017 Dec 24; 122(4):172-181. PubMed ID: 29126765
    [Abstract] [Full Text] [Related]

  • 4. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
    Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A.
    Hum Mol Genet; 2012 Oct 15; 21(20):4521-9. PubMed ID: 22833457
    [Abstract] [Full Text] [Related]

  • 5. Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on Epileptogenesis.
    Kong LY, Wu YZ, Cheng RQ, Wang PH, Peng BW.
    Mol Neurobiol; 2023 Sep 15; 60(9):5482-5492. PubMed ID: 37316759
    [Abstract] [Full Text] [Related]

  • 6. Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
    González-Serrano LE, Karim L, Pierre F, Schwenzer H, Rötig A, Munnich A, Sissler M.
    J Biol Chem; 2018 Aug 31; 293(35):13604-13615. PubMed ID: 30006346
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
    Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH.
    J Med Genet; 2015 Aug 31; 52(8):532-40. PubMed ID: 25787132
    [Abstract] [Full Text] [Related]

  • 9. Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic and mitochondrial tRNALys.
    Wang Y, Zhou JB, Zeng QY, Wu S, Xue MQ, Fang P, Wang ED, Zhou XL.
    Sci China Life Sci; 2020 Aug 31; 63(8):1227-1239. PubMed ID: 32189241
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
    Chen W, Rehsi P, Thompson K, Yeo M, Stals K, He L, Schimmel P, Chrzanowska-Lightowlers ZMA, Wakeling E, Taylor RW, Kuhle B.
    Mol Genet Metab; 2023 Nov 31; 140(3):107657. PubMed ID: 37523899
    [Abstract] [Full Text] [Related]

  • 12. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases.
    Suzuki T, Nagao A, Suzuki T.
    Annu Rev Genet; 2011 Nov 31; 45():299-329. PubMed ID: 21910628
    [Abstract] [Full Text] [Related]

  • 13. 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 31; 6(2):183-93. PubMed ID: 24413189
    [Abstract] [Full Text] [Related]

  • 14. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
    Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J.
    J Med Genet; 2011 Oct 31; 48(10):660-668. PubMed ID: 21931168
    [Abstract] [Full Text] [Related]

  • 15. Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease.
    Peretz M, Tworowski D, Kartvelishvili E, Livingston J, Chrzanowska-Lightowlers Z, Safro M.
    FEBS J; 2020 Sep 31; 287(17):3814-3826. PubMed ID: 32115907
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
    Maffezzini C, Laine I, Dallabona C, Clemente P, Calvo-Garrido J, Wibom R, Naess K, Barbaro M, Falk A, Donnini C, Freyer C, Wredenberg A, Wedell A.
    Mol Genet Genomic Med; 2019 Jun 31; 7(6):e654. PubMed ID: 30920170
    [Abstract] [Full Text] [Related]

  • 17. Isolated cytochrome c oxidase deficiency as a cause of MELAS.
    Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Thier K, Prayer D, Bernert G, Bittner RE.
    J Med Genet; 2008 Feb 31; 45(2):117-21. PubMed ID: 18245391
    [Abstract] [Full Text] [Related]

  • 18. CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
    Blocquel D, Sun L, Matuszek Z, Li S, Weber T, Kuhle B, Kooi G, Wei N, Baets J, Pan T, Schimmel P, Yang XL.
    Proc Natl Acad Sci U S A; 2019 Sep 24; 116(39):19440-19448. PubMed ID: 31501329
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 17.