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Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Gilley J, et al. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. Elife. 2021. PMID: 34796871 Free PMC article.
NAD+ cleavage activity by animal and plant TIR domains in cell death pathways.
Horsefield S, Burdett H, Zhang X, Manik MK, Shi Y, Chen J, Qi T, Gilley J, Lai JS, Rank MX, Casey LW, Gu W, Ericsson DJ, Foley G, Hughes RO, Bosanac T, von Itzstein M, Rathjen JP, Nanson JD, Boden M, Dry IB, Williams SJ, Staskawicz BJ, Coleman MP, Ve T, Dodds PN, Kobe B. Horsefield S, et al. Science. 2019 Aug 23;365(6455):793-799. doi: 10.1126/science.aax1911. Science. 2019. PMID: 31439792
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Huppke P, et al. Exp Neurol. 2019 Oct;320:112958. doi: 10.1016/j.expneurol.2019.112958. Epub 2019 May 24. Exp Neurol. 2019. PMID: 31132363
17 results