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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: mitchell nl. 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: mitchell nl. 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.
Molecular neuropathology of the synapse in sheep with CLN5 Batten disease.
Amorim IS, Mitchell NL, Palmer DN, Sawiak SJ, Mason R, Wishart TM, Gillingwater TH. Amorim IS, et al. Among authors: mitchell nl. Brain Behav. 2015 Oct 9;5(11):e00401. doi: 10.1002/brb3.401. eCollection 2015 Nov. Brain Behav. 2015. PMID: 26664787 Free PMC article.
39 results