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Items: 1 to 20 of 106

1.

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.

Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A.

Amino Acids. 2012 May;42(5):1661-8. doi: 10.1007/s00726-011-0868-4. Epub 2011 Mar 8.

PMID:
21384131
2.

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 14;106(28):11782-7. doi: 10.1073/pnas.0905339106. Epub 2009 Jun 26.

3.

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
4.

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.

5.

Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.

Froelich CA, First EA.

Biochemistry. 2011 Aug 23;50(33):7132-45. doi: 10.1021/bi200989h. Epub 2011 Jul 26.

PMID:
21732632
6.

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].

7.

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.

8.

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.

9.

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.

10.

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

Abe A, Hayasaka K.

J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27.

PMID:
19329989
11.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM.

Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30.

PMID:
15731758
12.

Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.

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

Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):9976-81. Epub 2007 Jun 1.

13.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
14.

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.

15.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R.

Am J Hum Genet. 2010 Jan;86(1):77-82. doi: 10.1016/j.ajhg.2009.12.005. Epub 2009 Dec 31.

16.

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; NISC Comparative Sequencing Program, 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. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Erratum in: Hum Mutat. 2014 Apr;35(4):512.

17.

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V.

Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6.

18.

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; NISC Comparative Sequencing Program, 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 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.

19.

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.

20.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.

Arch Neurol. 2005 Aug;62(8):1201-7.

PMID:
16087758
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