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Page 1
High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.
Li X, Ménade M, Kozlov G, Hu Z, Dai Z, McPherson PS, Brais B, Gehring K. Li X, et al. Among authors: brais b. PLoS One. 2015 Sep 14;10(9):e0137298. doi: 10.1371/journal.pone.0137298. eCollection 2015. PLoS One. 2015. PMID: 26366743 Free PMC article.
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS. Girard M, et al. Among authors: brais b. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17. Proc Natl Acad Sci U S A. 2012. PMID: 22307627 Free PMC article.
Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: brais b. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B. Larivière R, et al. Among authors: brais b. Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491. Epub 2014 Sep 26. Hum Mol Genet. 2015. PMID: 25260547 Free PMC article.
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Tétreault M, et al. Among authors: brais b. Brain. 2015 Jun;138(Pt 6):1477-83. doi: 10.1093/brain/awv074. Epub 2015 Mar 28. Brain. 2015. PMID: 25818867 Free PMC article.
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD. Gentil BJ, et al. Among authors: brais b. FASEB J. 2019 Feb;33(2):2982-2994. doi: 10.1096/fj.201801556R. Epub 2018 Oct 17. FASEB J. 2019. PMID: 30332300
Increasing expression of heat shock proteins also resolved neurofilament bundles, indicating that this endogenous chaperone system can compensate to some extent for sacsin deficiency.-Gentil, B. J., Lai, G.-T., Menade, M., Lariviere, R., Minotti, S., Gehring, K., Chapple, …
Increasing expression of heat shock proteins also resolved neurofilament bundles, indicating that this endogenous chaperone system can compe …
The J Domain of Sacsin Disrupts Intermediate Filament Assembly.
Dabbaghizadeh A, Paré A, Cheng-Boivin Z, Dagher R, Minotti S, Dicaire MJ, Brais B, Young JC, Durham HD, Gentil BJ. Dabbaghizadeh A, et al. Among authors: brais b. Int J Mol Sci. 2022 Dec 12;23(24):15742. doi: 10.3390/ijms232415742. Int J Mol Sci. 2022. PMID: 36555380 Free PMC article.
229 results