Search

Now showing items 1-2 of 2

Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis

Kanninen, K. M.; Grubman, A.; Meyerowitz, J.; Duncan, C.; Tan, J.-L.; Parker, S. J.; Crouch, P. J.; Paterson, B. M.; Hickey, J. L.; Donnelly, P. S.; Volitakis, I.; Tammen, I.; Palmer, David N.; White, A. R. (Public Library of Science, 2013-03-14)

Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, ...

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, Nadia L.; Kay, Graham W.; Cavanagh, J. A. L.; Cook, R. W.; Raadsma, H. W.; Palmer, David N. (Elsevier, 2006-10)

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases of humans and animals characterised by common clinical signs and pathology. These include ...