Works matching DE "AMINOACYL-tRNA synthetases"


Results: 313
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    Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
    By:
    • Beijer, Danique;
    • Marte, Sheila;
    • Li, Jiaxin C;
    • Ridder, Willem De;
    • Chen, Jessie Z;
    • Tadenev, Abigail L D;
    • Miers, Kathy E;
    • Deconinck, Tine;
    • Macdonell, Richard;
    • Marques, Wilson;
    • Jonghe, Peter De;
    • Pratt, Samia L;
    • Meyer-Schuman, Rebecca;
    • Züchner, Stephan;
    • Antonellis, Anthony;
    • Burgess, Robert W;
    • Baets, Jonathan
    Publication type:
    Article
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    Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
    By:
    • McMillan, Hugh J.;
    • Humphreys, Peter;
    • Smith, Amanda;
    • Schwartzentruber, Jeremy;
    • Chakraborty, Pranesh;
    • Bulman, Dennis E.;
    • Beaulieu, Chandree L.;
    • Majewski, Jacek;
    • Boycott, Kym M.;
    • Geraghty, Michael T.
    Publication type:
    Article
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    Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 2, p. 244, doi. 10.1002/ana.26501
    By:
    • He, Jin;
    • Liu, Xiao‐Xuan;
    • Ma, Ming‐Ming;
    • Lin, Jing‐Jing;
    • Fu, Jun;
    • Chen, Yi‐Kun;
    • Xu, Guo‐Rong;
    • Xu, Liu‐Qing;
    • Fu, Zhi‐Fei;
    • Xu, Dan;
    • Chen, Wen‐Feng;
    • Cao, Chun‐Yan;
    • Shi, Yan;
    • Zeng, Yi‐Heng;
    • Zhang, Jing;
    • Chen, Xiao‐Chun;
    • Zhang, Ru‐Xu;
    • Wang, Ning;
    • Kennerson, Marina;
    • Fan, Dong‐Sheng
    Publication type:
    Article
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    Translocation at work.

    Published in:
    Nature Structural & Molecular Biology, 2013, v. 20, n. 9, p. 1019, doi. 10.1038/nsmb.2661
    By:
    • Achenbach, John;
    • Nierhaus, Knud H
    Publication type:
    Article
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    A human histidyl-tRNA synthetase splice variant therapeutic targets NRP2 to resolve lung inflammation and fibrosis.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 789, p. 1, doi. 10.1126/scitranslmed.adp4754
    By:
    • Nangle, Leslie A.;
    • Xu, Zhiwen;
    • Siefker, David;
    • Burkart, Christoph;
    • Chong, Yeeting E.;
    • Zhai, Liting;
    • Geng, Yanyan;
    • Polizzi, Clara;
    • Guy, Lauren;
    • Eide, Lisa;
    • Tong, Yao;
    • Klopp-Savino, Sofia;
    • Ferrer, Michaela;
    • Rauch, Kaitlyn;
    • Wang, Annie;
    • Hamel, Kristina;
    • Crampton, Steve;
    • Paz, Suzanne;
    • Chiang, Kyle P.;
    • Do, Minh-Ha
    Publication type:
    Article
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    Dual-targeted hit identification using pharmacophore screening.

    Published in:
    Journal of Computer-Aided Molecular Design, 2019, v. 33, n. 11, p. 955, doi. 10.1007/s10822-019-00245-5
    By:
    • Volynets, Galyna P.;
    • Starosyla, Sergiy A.;
    • Rybak, Mariia Yu.;
    • Bdzhola, Volodymyr G.;
    • Kovalenko, Oksana P.;
    • Vdovin, Vasyl S.;
    • Yarmoluk, Sergiy M.;
    • Tukalo, Michail A.
    Publication type:
    Article
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