Antonellis A - Search Results

1

Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases.

Garin S, Levi O, Forrest ME, Antonellis A, Arava YS. Garin S, et al. Among authors: antonellis a. RNA Biol. 2021 Dec;18(12):2605-2616. doi: 10.1080/15476286.2021.1935116. Epub 2021 Jun 10. RNA Biol. 2021. PMID: 34039240 Free PMC article.

2

The role of aminoacyl-tRNA synthetases in genetic diseases.

Antonellis A, Green ED. Antonellis A, et al. Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.164204. Annu Rev Genomics Hum Genet. 2008. PMID: 18767960 Review.

3

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program; Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. Vester A, et al. Among authors: antonellis a. Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22930593 Free PMC article.

4

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

Wallen RC, Antonellis A. Wallen RC, et al. Among authors: antonellis a. Curr Opin Genet Dev. 2013 Jun;23(3):302-9. doi: 10.1016/j.gde.2013.02.002. Epub 2013 Mar 4. Curr Opin Genet Dev. 2013. PMID: 23465884 Free PMC article. Review.

5

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN, Griffin LB, Beg AA, Antonellis A. Oprescu SN, et al. Among authors: antonellis a. Methods. 2017 Jan 15;113:139-151. doi: 10.1016/j.ymeth.2016.11.013. Epub 2016 Nov 20. Methods. 2017. PMID: 27876679 Free PMC article. Review.

6

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Meyer-Schuman R, Antonellis A. Meyer-Schuman R, et al. Among authors: antonellis a. Hum Mol Genet. 2017 Oct 1;26(R2):R114-R127. doi: 10.1093/hmg/ddx231. Hum Mol Genet. 2017. PMID: 28633377 Free PMC article. Review.

7

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW. Antonellis A, et al. Hum Mutat. 2018 Jun;39(6):834-840. doi: 10.1002/humu.23424. Epub 2018 Apr 10. Hum Mutat. 2018. PMID: 29573043 Free PMC article.

8

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. Among authors: antonellis a. Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290. Hum Mol Genet. 2018. PMID: 30124830 Free PMC article.

9

Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

Kuo ME, Antonellis A. Kuo ME, et al. Among authors: antonellis a. Trends Genet. 2020 Feb;36(2):105-117. doi: 10.1016/j.tig.2019.11.007. Epub 2019 Dec 12. Trends Genet. 2020. PMID: 31839378 Free PMC article. Review.

10

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Meyer AP, Forrest ME, Nicolau S, Wiszniewski W, Bland MP, Tsao CY, Antonellis A, Abreu NJ. Meyer AP, et al. Among authors: antonellis a. Hum Mutat. 2022 Jul;43(7):869-876. doi: 10.1002/humu.24372. Epub 2022 Apr 21. Hum Mutat. 2022. PMID: 35332613 Free PMC article.

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