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Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria.
Deng HX, Shi Y, Furukawa Y, Zhai H, Fu R, Liu E, Gorrie GH, Khan MS, Hung WY, Bigio EH, Lukas T, Dal Canto MC, O'Halloran TV, Siddique T. Deng HX, et al. Among authors: zhai h. Proc Natl Acad Sci U S A. 2006 May 2;103(18):7142-7. doi: 10.1073/pnas.0602046103. Epub 2006 Apr 24. Proc Natl Acad Sci U S A. 2006. PMID: 16636275 Free PMC article.
Distal axonopathy in an alsin-deficient mouse model.
Deng HX, Zhai H, Fu R, Shi Y, Gorrie GH, Yang Y, Liu E, Dal Canto MC, Mugnaini E, Siddique T. Deng HX, et al. Among authors: zhai h. Hum Mol Genet. 2007 Dec 1;16(23):2911-20. doi: 10.1093/hmg/ddm251. Epub 2007 Sep 12. Hum Mol Genet. 2007. PMID: 17855450
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T. Deng HX, et al. Among authors: zhai h. Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353. Nature. 2011. PMID: 21857683 Free PMC article.
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.
Gorrie GH, Fecto F, Radzicki D, Weiss C, Shi Y, Dong H, Zhai H, Fu R, Liu E, Li S, Arrat H, Bigio EH, Disterhoft JF, Martina M, Mugnaini E, Siddique T, Deng HX. Gorrie GH, et al. Among authors: zhai h. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14524-9. doi: 10.1073/pnas.1405741111. Epub 2014 Sep 22. Proc Natl Acad Sci U S A. 2014. PMID: 25246588 Free PMC article.
2,094 results