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TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Godoy-Corchuelo JM, Ali Z, Brito Armas JM, Martins-Bach AB, García-Toledo I, Fernández-Beltrán LC, López-Carbonero JI, Bascuñana P, Spring S, Jimenez-Coca I, Muñoz de Bustillo Alfaro RA, Sánchez-Barrena MJ, Nair RR, Nieman BJ, Lerch JP, Miller KL, Ozdinler HP, Fisher EMC, Cunningham TJ, Acevedo-Arozena A, Corrochano S. Godoy-Corchuelo JM, et al. Among authors: corrochano s. Neurobiol Dis. 2024 Apr;193:106437. doi: 10.1016/j.nbd.2024.106437. Epub 2024 Feb 15. Neurobiol Dis. 2024. PMID: 38367882 Free PMC article.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A. Harris A, et al. Among authors: corrochano s. Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. doi: 10.1073/pnas.1801223115. Epub 2018 May 7. Proc Natl Acad Sci U S A. 2018. PMID: 29735715 Free PMC article.
α-Synuclein levels modulate Huntington's disease in mice.
Corrochano S, Renna M, Carter S, Chrobot N, Kent R, Stewart M, Cooper J, Brown SD, Rubinsztein DC, Acevedo-Arozena A. Corrochano S, et al. Hum Mol Genet. 2012 Feb 1;21(3):485-94. doi: 10.1093/hmg/ddr477. Epub 2011 Oct 18. Hum Mol Genet. 2012. PMID: 22010050 Free PMC article.
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: corrochano s. Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2. Hum Mol Genet. 2015. PMID: 25468678 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: corrochano s. 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.
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