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Items: 6

1.

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.

Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11.

2.

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.

3.

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
4.

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN, Griffin LB, Beg AA, Antonellis A.

Methods. 2017 Jan 15;113:139-151. doi: 10.1016/j.ymeth.2016.11.013. Epub 2016 Nov 20. Review.

PMID:
27876679
5.

Histidyl-tRNA synthetase.

Freist W, Verhey JF, Rühlmann A, Gauss DH, Arnez JG.

Biol Chem. 1999 Jun;380(6):623-46. Review.

PMID:
10430027
6.

Strategy for RNA recognition by yeast histidyl-tRNA synthetase.

Rudinger J, Felden B, Florentz C, Giegé R.

Bioorg Med Chem. 1997 Jun;5(6):1001-9. Review.

PMID:
9222493

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