BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 32543048)

  • 1. Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
    Mullen P; Abbott JA; Wellman T; Aktar M; Fjeld C; Demeler B; Ebert AM; Francklyn CS
    FEBS J; 2021 Jan; 288(1):142-159. PubMed ID: 32543048
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase.
    Memezawa S; Sato T; Ochiai A; Fukawa M; Sawaguchi S; Sango K; Miyamoto Y; Yamauchi J
    Neurochem Res; 2022 Sep; 47(9):2684-2702. PubMed ID: 35380399
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.
    Meyer-Schuman R; Antonellis A
    FEBS J; 2021 Jan; 288(1):91-94. PubMed ID: 32940403
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 116(39):19440-19448. PubMed ID: 31501329
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
    Nam DE; Park JH; Park CE; Jung NY; Nam SH; Kwon HM; Kim HS; Kim SB; Son WS; Choi BO; Chung KW
    J Peripher Nerv Syst; 2022 Mar; 27(1):38-49. PubMed ID: 34813128
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
    Ermanoska B; Motley WW; Leitão-Gonçalves R; Asselbergh B; Lee LH; De Rijk P; Sleegers K; Ooms T; Godenschwege TA; Timmerman V; Fischbeck KH; Jordanova A
    Neurobiol Dis; 2014 Aug; 68():180-9. PubMed ID: 24807208
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
    Bervoets S; Wei N; Erfurth ML; Yusein-Myashkova S; Ermanoska B; Mateiu L; Asselbergh B; Blocquel D; Kakad P; Penserga T; Thomas FP; Guergueltcheva V; Tournev I; Godenschwege T; Jordanova A; Yang XL
    Nat Commun; 2019 Nov; 10(1):5045. PubMed ID: 31695036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
    Abbott JA; Meyer-Schuman R; Lupo V; Feely S; Mademan I; Oprescu SN; Griffin LB; Alberti MA; Casasnovas C; Aharoni S; Basel-Vanagaite L; Züchner S; De Jonghe P; Baets J; Shy ME; Espinós C; Demeler B; Antonellis A; Francklyn C
    Hum Mutat; 2018 Mar; 39(3):415-432. PubMed ID: 29235198
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.
    Malissovas N; Griffin LB; Antonellis A; Beis D
    Hum Mol Genet; 2016 Apr; 25(8):1528-42. PubMed ID: 27008886
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
    Niehues S; Bussmann J; Steffes G; Erdmann I; Köhrer C; Sun L; Wagner M; Schäfer K; Wang G; Koerdt SN; Stum M; Jaiswal S; RajBhandary UL; Thomas U; Aberle H; Burgess RW; Yang XL; Dieterich D; Storkebaum E
    Nat Commun; 2015 Jul; 6():7520. PubMed ID: 26138142
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.
    Rhymes ER; Simkin RL; Qu J; Villarroel-Campos D; Surana S; Tong Y; Shapiro R; Burgess RW; Yang XL; Schiavo G; Sleigh JN
    Neurobiol Dis; 2024 Jun; 195():106501. PubMed ID: 38583640
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
    Griffin LB; Sakaguchi R; McGuigan D; Gonzalez MA; Searby C; Züchner S; Hou YM; Antonellis A
    Hum Mutat; 2014 Nov; 35(11):1363-71. PubMed ID: 25168514
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
    Wei N; Zhang Q; Yang XL
    J Biol Chem; 2019 Apr; 294(14):5321-5339. PubMed ID: 30643024
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
    McLaughlin HM; Sakaguchi R; Giblin W; ; Wilson TE; Biesecker L; Lupski JR; Talbot K; Vance JM; Züchner S; Lee YC; Kennerson M; Hou YM; Nicholson G; Antonellis A
    Hum Mutat; 2012 Jan; 33(1):244-53. PubMed ID: 22009580
    [TBL] [Abstract][Full Text] [Related]  

  • 15.
    Morant L; Erfurth ML; Jordanova A
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680913
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
    McLaughlin HM; Sakaguchi R; Liu C; Igarashi T; Pehlivan D; Chu K; Iyer R; Cruz P; Cherukuri PF; Hansen NF; Mullikin JC; ; Biesecker LG; Wilson TE; Ionasescu V; Nicholson G; Searby C; Talbot K; Vance JM; Züchner S; Szigeti K; Lupski JR; Hou YM; Green ED; Antonellis A
    Am J Hum Genet; 2010 Oct; 87(4):560-6. PubMed ID: 20920668
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
    Storkebaum E; Leitão-Gonçalves R; Godenschwege T; Nangle L; Mejia M; Bosmans I; Ooms T; Jacobs A; Van Dijck P; Yang XL; Schimmel P; Norga K; Timmerman V; Callaerts P; Jordanova A
    Proc Natl Acad Sci U S A; 2009 Jul; 106(28):11782-7. PubMed ID: 19561293
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response.
    Mendonsa S; von Kuegelgen N; Bujanic L; Chekulaeva M
    Nucleic Acids Res; 2021 Sep; 49(17):10007-10017. PubMed ID: 34403468
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
    Safka Brozkova D; Deconinck T; Griffin LB; Ferbert A; Haberlova J; Mazanec R; Lassuthova P; Roth C; Pilunthanakul T; Rautenstrauss B; Janecke AR; Zavadakova P; Chrast R; Rivolta C; Zuchner S; Antonellis A; Beg AA; De Jonghe P; Senderek J; Seeman P; Baets J
    Brain; 2015 Aug; 138(Pt 8):2161-72. PubMed ID: 26072516
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
    Motley WW; Seburn KL; Nawaz MH; Miers KE; Cheng J; Antonellis A; Green ED; Talbot K; Yang XL; Fischbeck KH; Burgess RW
    PLoS Genet; 2011 Dec; 7(12):e1002399. PubMed ID: 22144914
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.