Article
Exacerbation of sensorimotor dysfunction in mice deficient in Atp13a2 and overexpressing human wildtype alpha-synuclein.
Behavioural brain research - 2 May 2018
Dirr Emily R, Ekhator Osunde R, Blackwood Rachel, Holden John G, Masliah Eliezer, Schultheis Patrick J, Fleming Sheila M
Abstract excerpt
Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD). The function of ATP13A2 is unclear but in vitro studies indicate it is a lysosomal protein and may interact with the presynaptic protein alpha-synuclein (aSyn) and certain heavy metals. Accumulation of aSyn is a major...
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