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Year Number of Results
1984 2
1995 2
1999 1
2000 1
2001 1
2006 1
2009 3
2010 1
2011 3
2012 3
2014 1
2015 1
2017 1
2018 2
2019 1
2021 2
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PubMed (OMIM) for id: 16

23 results

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Page 1
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W. Botta E, et al. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123. Hum Mol Genet. 2021. PMID: 33909043 Free PMC article.
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Sun L, Wei N, Kuhle B, Blocquel D, Novick S, Matuszek Z, Zhou H, He W, Zhang J, Weber T, Horvath R, Latour P, Pan T, Schimmel P, Griffin PR, Yang XL. Sun L, et al. Proc Natl Acad Sci U S A. 2021 Mar 30;118(13):e2012898118. doi: 10.1073/pnas.2012898118. Proc Natl Acad Sci U S A. 2021. PMID: 33753480 Free PMC article.
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, van Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, de Visser M, Antonellis A, Baas F. Weterman MAJ, et al. Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290. Hum Mol Genet. 2018. PMID: 30124830 Free PMC article.
ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase.
Vo MN, Terrey M, Lee JW, Roy B, Moresco JJ, Sun L, Fu H, Liu Q, Weber TG, Yates JR 3rd, Fredrick K, Schimmel P, Ackerman SL. Vo MN, et al. Nature. 2018 May;557(7706):510-515. doi: 10.1038/s41586-018-0137-8. Epub 2018 May 16. Nature. 2018. PMID: 29769718 Free PMC article.
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan DJ, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH. Nakayama T, et al. Hum Mutat. 2017 Oct;38(10):1348-1354. doi: 10.1002/humu.23250. Epub 2017 Jun 23. Hum Mutat. 2017. PMID: 28493438 Free PMC article.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.
Human tRNA synthetase catalytic nulls with diverse functions.
Lo WS, Gardiner E, Xu Z, Lau CF, Wang F, Zhou JJ, Mendlein JD, Nangle LA, Chiang KP, Yang XL, Au KF, Wong WH, Guo M, Zhang M, Schimmel P. Lo WS, et al. Science. 2014 Jul 18;345(6194):328-32. doi: 10.1126/science.1252943. Science. 2014. PMID: 25035493 Free PMC article.
23 results