Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

CLN6 - ceroid-lipofuscinosis, neuronal 6, late...

Ovis aries

Tammen, I. et al., Kay, G.W. et al.

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Disease relevance of CLN6

Sheep with a CLN6 form that have a human-like brain and disease progression are invaluable for studying pathogenesis [1].

High impact information on CLN6

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 [2].

Analytical, diagnostic and therapeutic context of CLN6

Linkage analysis established that CLN6 is the gene most likely to cause NCL in affected South Hampshire sheep, which do not have the c.184C>T mutation but show reduced expression of CLN6 mRNA in a range of tissues as determined by real-time PCR [2].

References

Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis. Kay, G.W., Palmer, D.N., Rezaie, P., Cooper, J.D. Brain Pathol. (2006) [Pubmed]
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, P.J., Frugier, T., Mitchell, N.L., Kay, G.W., Cavanagh, J.A., Cook, R.W., Raadsma, H.W., Palmer, D.N. Biochim. Biophys. Acta (2006) [Pubmed]

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