Parkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra. While sporadic in the majority of cases. PD-linked dominant mutations in the a-synuclein and LRRK-2 genes, and recess ...
Mutations in the ATP13A2 gene (PARK9, OMIM 610513) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome and early-onset parkinsonism. ATP13A2 is an uncharacterized protein belonging to the P-5-type ATPase subfamily that is predicted to regulate t ...
Increased expression of α-synuclein and point mutations in its amino acid sequence play a causative role in familial forms of Parkinson's disease (PD). In addition, circumstances affecting the level of α-synuclein expression significantly increase the risk ...
alpha-Synuclein (alpha-syn) is a presynaptic protein present at most nerve terminals, but its function remains largely unknown. The familial forms of Parkinson's disease associated with multiplications of the alpha-syn gene locus indicate that overabundanc ...
