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Year | Number of Results |
---|---|
2005 | 1 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
PubMed for id: 1206271593
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Cysteinyl-tRNA synthetase governs cysteine polysulfidation and mitochondrial bioenergetics.
Nat Commun. 2017 Oct 27;8(1):1177. doi: 10.1038/s41467-017-01311-y.
Nat Commun. 2017.
PMID: 29079736
Free PMC article.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH.
Coughlin CR 2nd, et al.
J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18.
J Med Genet. 2015.
PMID: 25787132
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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS.
Hallmann K, et al.
Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.
Neurology. 2014.
PMID: 25361775
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Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M.
Bonnefond L, et al.
Biochemistry. 2005 Mar 29;44(12):4805-16. doi: 10.1021/bi047527z.
Biochemistry. 2005.
PMID: 15779907
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