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Items: 1 to 20 of 159

1.

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.

Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW.

Mol Cell Neurosci. 2011 Feb;46(2):432-43. doi: 10.1016/j.mcn.2010.11.006. Epub 2010 Nov 27.

2.

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. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5.

3.

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.

Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW.

Neuron. 2006 Sep 21;51(6):715-26.

4.

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED.

J Neurosci. 2006 Oct 11;26(41):10397-406.

5.

Inherited neuropathies: new genes don't fit old models.

Scherer SS.

Neuron. 2006 Sep 21;51(6):672-4.

6.

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.

Wallen RC, Antonellis A.

Curr Opin Genet Dev. 2013 Jun;23(3):302-9. doi: 10.1016/j.gde.2013.02.002. Epub 2013 Mar 4. Review.

7.

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. doi: 10.1371/journal.pgen.1002399. Epub 2011 Dec 1.

8.

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.

Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM.

Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26.

9.

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 3;6:7520. doi: 10.1038/ncomms8520. Erratum in: Nat Commun. 2016;7:10497. Jaiswal, Sumit [Added].

10.

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. doi: 10.1002/humu.22681.

11.

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.

Storkebaum E.

Bioessays. 2016 Sep;38(9):818-29. doi: 10.1002/bies.201600052. Epub 2016 Jun 28. Review.

12.

The role of aminoacyl-tRNA synthetases in genetic diseases.

Antonellis A, Green ED.

Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.164204. Review.

PMID:
18767960
13.

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V.

Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22.

PMID:
16429158
14.

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P.

Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. Epub 2007 Jun 26.

15.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R.

J Neurol. 2015 Aug;262(8):1899-908. doi: 10.1007/s00415-015-7778-4. Epub 2015 Jun 2.

16.

A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).

Seo AJ, Shin YH, Lee SJ, Kim D, Park BS, Kim S, Choi KH, Jeong NY, Park C, Jang JY, Huh Y, Jung J.

J Mol Histol. 2014 Apr;45(2):121-8. doi: 10.1007/s10735-013-9537-0. Epub 2013 Aug 30.

PMID:
23990368
17.

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice.

Sleigh JN, Grice SJ, Burgess RW, Talbot K, Cader MZ.

Hum Mol Genet. 2014 May 15;23(10):2639-50. doi: 10.1093/hmg/ddt659. Epub 2013 Dec 23.

18.

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.

Banks GT, Bros-Facer V, Williams HP, Chia R, Achilli F, Bryson JB, Greensmith L, Fisher EM.

PLoS One. 2009 Jul 13;4(7):e6218. doi: 10.1371/journal.pone.0006218.

19.

Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

Malissovas N, Griffin LB, Antonellis A, Beis D.

Hum Mol Genet. 2016 Apr 15;25(8):1528-42. doi: 10.1093/hmg/ddw031. Epub 2016 Feb 7.

20.

The role of tRNA synthetases in neurological and neuromuscular disorders.

Boczonadi V, Jennings MJ, Horvath R.

FEBS Lett. 2017 Dec 30. doi: 10.1002/1873-3468.12962. [Epub ahead of print] Review.

PMID:
29288497

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