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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium. Parkinson N, et al. Among authors: skibinski g. Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28. Neurology. 2006. PMID: 16807408
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Skibinski G, et al. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041373
Frontotemporal dementia linked to chromosome 3.
Brown J, Gydesen S, Johannsen P, Gade A, Skibinski G, Chakrabarti L, Brun A, Spillantini M, Yancopoulou D, Thusgaard T, Sorensen A, Fisher E, Collinge J; FReJA (Frontotemporal Dementia Research in Jutland Association). Brown J, et al. Among authors: skibinski g. Dement Geriatr Cogn Disord. 2004;17(4):274-6. doi: 10.1159/000077153. Dement Geriatr Cogn Disord. 2004. PMID: 15178935
Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein.
Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH. Nakamura K, et al. Among authors: skibinski g. J Biol Chem. 2011 Jun 10;286(23):20710-26. doi: 10.1074/jbc.M110.213538. Epub 2011 Apr 13. J Biol Chem. 2011. PMID: 21489994 Free PMC article.
iPS cells in the study of PD molecular pathogenesis.
Cobb MM, Ravisankar A, Skibinski G, Finkbeiner S. Cobb MM, et al. Among authors: skibinski g. Cell Tissue Res. 2018 Jul;373(1):61-77. doi: 10.1007/s00441-017-2749-y. Epub 2017 Dec 12. Cell Tissue Res. 2018. PMID: 29234887 Free PMC article. Review.
Targeting the intrinsically disordered structural ensemble of α-synuclein by small molecules as a potential therapeutic strategy for Parkinson's disease.
Tóth G, Gardai SJ, Zago W, Bertoncini CW, Cremades N, Roy SL, Tambe MA, Rochet JC, Galvagnion C, Skibinski G, Finkbeiner S, Bova M, Regnstrom K, Chiou SS, Johnston J, Callaway K, Anderson JP, Jobling MF, Buell AK, Yednock TA, Knowles TP, Vendruscolo M, Christodoulou J, Dobson CM, Schenk D, McConlogue L. Tóth G, et al. Among authors: skibinski g. PLoS One. 2014 Feb 14;9(2):e87133. doi: 10.1371/journal.pone.0087133. eCollection 2014. PLoS One. 2014. PMID: 24551051 Free PMC article.
95 results