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Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.
Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Kuo YM, et al. Among authors: nussbaum rl. Hum Mol Genet. 2010 May 1;19(9):1633-50. doi: 10.1093/hmg/ddq038. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106867 Free PMC article.
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Bothwell SP, et al. Among authors: nussbaum rl. J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23. J Am Soc Nephrol. 2011. PMID: 21183592 Free PMC article.
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: nussbaum rl. 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.
330 results