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Items: 1 to 20 of 100

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.

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
5.

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.

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.

Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.

Blocquel D, Li S, Wei N, Daub H, Sajish M, Erfurth ML, Kooi G, Zhou J, Bai G, Schimmel P, Jordanova A, Yang XL.

Nucleic Acids Res. 2017 Jul 27;45(13):8091-8104. doi: 10.1093/nar/gkx455.

8.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Nowaczyk MJ, Huang L, Tarnopolsky M, Schwartzentruber J, Majewski J, Bulman DE; FORGE Canada Consortium, Care4Rare Canada Consortium, Hartley T, Boycott KM.

Am J Med Genet A. 2017 Jan;173(1):126-134. doi: 10.1002/ajmg.a.37973. Epub 2016 Sep 15.

PMID:
27633801
9.

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
10.

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.

11.

Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model.

Lee S, Panthi S, Jo HW, Cho J, Kim MS, Jeong NY, Song IO, Jung J, Huh Y.

Neural Regen Res. 2017 Mar;12(3):486-492. doi: 10.4103/1673-5374.202920.

12.

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
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.

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.

16.

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.

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.

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.

19.

Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A.

J Neurol. 2016 Mar;263(3):467-76. doi: 10.1007/s00415-015-7989-8. Epub 2016 Jan 2.

PMID:
26725087
20.

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.

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