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The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Spaulding EL, et al. Among authors: stum mg. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1. Science. 2021. PMID: 34516839 Free PMC article.
Genetic analysis of Pycr1 and Pycr2 in mice.
Stum MG, Tadenev ALD, Seburn KL, Miers KE, Poon PP, McMaster CR, Robinson C, Kane C, Silva KA, Cliften PF, Sundberg JP, Reinholdt LG, John SWM, Burgess RW. Stum MG, et al. Genetics. 2021 May 17;218(1):iyab048. doi: 10.1093/genetics/iyab048. Genetics. 2021. PMID: 33734376 Free PMC article.
Corrigendum: 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. Niehues S, et al. Nat Commun. 2016 Jan 21;7:10497. doi: 10.1038/ncomms10497. Nat Commun. 2016. PMID: 26792285 Free PMC article. No abstract available.
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752
11 results