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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, Myszczynska MA, Alam SM, Garneret P, Chandran JS, Karyka E, Stopford MJ, Smith EF, Kirby J, Meyer K, Kaspar BK, Isaacs AM, El-Khamisy SF, De Vos KJ, Ning K, Azzouz M, Whitworth AJ, Shaw PJ. Hautbergue GM, et al. Among authors: stopford mj. Nat Commun. 2017 Jul 5;8:16063. doi: 10.1038/ncomms16063. Nat Commun. 2017. PMID: 28677678 Free PMC article.
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR; ITALSGEN Consortium, NeuroX Consortium; Kirby J, Shaw PJ. Stopford MJ, et al. Hum Mol Genet. 2017 Mar 15;26(6):1133-1145. doi: 10.1093/hmg/ddx022. Hum Mol Genet. 2017. PMID: 28158451 Free PMC article.
MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis.
Glajch KE, Ferraiuolo L, Mueller KA, Stopford MJ, Prabhkar V, Gravanis A, Shaw PJ, Sadri-Vakili G. Glajch KE, et al. Among authors: stopford mj. PLoS One. 2016 Oct 7;11(10):e0164103. doi: 10.1371/journal.pone.0164103. eCollection 2016. PLoS One. 2016. PMID: 27716798 Free PMC article.
Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis.
Allen SP, Hall B, Castelli LM, Francis L, Woof R, Siskos AP, Kouloura E, Gray E, Thompson AG, Talbot K, Higginbottom A, Myszczynska M, Allen CF, Stopford MJ, Hemingway J, Bauer CS, Webster CP, De Vos KJ, Turner MR, Keun HC, Hautbergue GM, Ferraiuolo L, Shaw PJ. Allen SP, et al. Among authors: stopford mj. Brain. 2019 Mar 1;142(3):586-605. doi: 10.1093/brain/awy353. Brain. 2019. PMID: 30698736 Free PMC article.