Person
Agata Podhajska
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Related publications (2)
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Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Liliane Glauser, Darren Moore, Sarah Catherine Sonnay, Klodjan Stafa, Alzbeta Trancikova, Alessandra Musso, Agata Podhajska
Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resultin ...
Public Library of Science2012PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity
Liliane Glauser, Elpida Tsika, Darren Moore, Sarah Catherine Sonnay, Klodjan Stafa, Alzbeta Trancikova, David Ramonet Jimenez, Agata Podhajska
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 ...
Oxford University Press2012