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Neuronal ceroid lipofuscinosis in Merino sheep.
Cook RW, Jolly RD, Palmer DN, Tammen I, Broom MF, McKinnon R. Cook RW, et al. Among authors: palmer dn. Aust Vet J. 2002 May;80(5):292-7. doi: 10.1111/j.1751-0813.2002.tb10847.x. Aust Vet J. 2002. PMID: 12074311
A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.
Tammen I, Houweling PJ, Frugier T, Mitchell NL, Kay GW, Cavanagh JA, Cook RW, Raadsma HW, Palmer DN. Tammen I, et al. Among authors: palmer dn. Biochim Biophys Acta. 2006 Oct;1762(10):898-905. doi: 10.1016/j.bbadis.2006.09.004. Epub 2006 Sep 12. Biochim Biophys Acta. 2006. PMID: 17046213 Free article.
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.
Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN. Frugier T, et al. Among authors: palmer dn. Neurobiol Dis. 2008 Feb;29(2):306-15. doi: 10.1016/j.nbd.2007.09.006. Epub 2007 Sep 29. Neurobiol Dis. 2008. PMID: 17988881 Free PMC article.
Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis.
Kanninen KM, Grubman A, Meyerowitz J, Duncan C, Tan JL, Parker SJ, Crouch PJ, Paterson BM, Hickey JL, Donnelly PS, Volitakis I, Tammen I, Palmer DN, White AR. Kanninen KM, et al. Among authors: palmer dn. PLoS One. 2013;8(3):e58644. doi: 10.1371/journal.pone.0058644. Epub 2013 Mar 14. PLoS One. 2013. PMID: 23516525 Free PMC article.
89 results