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Page 1
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC. Devoy A, et al. Among authors: humphrey j. Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248. Brain. 2017. PMID: 29053787 Free PMC article.
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: humphrey j. 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.
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. Sivakumar P, et al. Among authors: humphrey j. Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260. Brain. 2018. PMID: 30364928 No abstract available.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Humphrey J, et al. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. Nucleic Acids Res. 2020. PMID: 32479602 Free PMC article.
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ. Habib AM, et al. Among authors: humphrey j. Brain. 2018 Feb 1;141(2):365-376. doi: 10.1093/brain/awx326. Brain. 2018. PMID: 29253101 Free PMC article.
Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility.
Raj T, Li YI, Wong G, Humphrey J, Wang M, Ramdhani S, Wang YC, Ng B, Gupta I, Haroutunian V, Schadt EE, Young-Pearse T, Mostafavi S, Zhang B, Sklar P, Bennett DA, De Jager PL. Raj T, et al. Among authors: humphrey j. Nat Genet. 2018 Nov;50(11):1584-1592. doi: 10.1038/s41588-018-0238-1. Epub 2018 Oct 8. Nat Genet. 2018. PMID: 30297968 Free PMC article.
1,162 results