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Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Fratta P, et al. Among authors: groves m. EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15. EMBO J. 2018. PMID: 29764981 Free PMC article.
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: groves m. Hum Mol Genet. 2016 Jan 15;25(2):291-307. doi: 10.1093/hmg/ddv471. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604141 Free PMC article.
Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse.
Banks GT, Haas MA, Line S, Shepherd HL, Alqatari M, Stewart S, Rishal I, Philpott A, Kalmar B, Kuta A, Groves M, Parkinson N, Acevedo-Arozena A, Brandner S, Bannerman D, Greensmith L, Hafezparast M, Koltzenburg M, Deacon R, Fainzilber M, Fisher EM. Banks GT, et al. Among authors: groves m. J Neurosci. 2011 Apr 6;31(14):5483-94. doi: 10.1523/JNEUROSCI.5244-10.2011. J Neurosci. 2011. PMID: 21471385 Free PMC article.
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. Achilli F, et al. Among authors: groves m. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26. Dis Model Mech. 2009. PMID: 19470612 Free PMC article.
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Among authors: groves mj. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111
650 results