Article
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
Human mutation - 1 Aug 2011
Park Jin-Sung, Mehta Prachi, Cooper Antony A, Veivers David, Heimbach André, Stiller Barbara, Kubisch Christian, Fung Victor S, Krainc Dimitri, Mackay-Sim Alan, Sue Carolyn M
Abstract excerpt
Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase. Recently, we identified novel compound heterozygous mutations, c.3176T>G (p.L1059R) and c.3253delC (p.L1085WfsX1088) in ATP13A2 of two siblings affected with KRS. When overexpressed,...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Chlorocebus aethiops
- Endoplasmic Reticulum
- Female
- Humans
- Lysosomes
- Male