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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, ...