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Agata Podhajska

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Related publications (3)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

Elucidating the molecular and cellular functions of ATP13A2, LRRK2 and VPS35 in the pathophysiology of Parkinson's disease

Agata Podhajska

EPFL2014

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

Liliane Glauser, Sarah Catherine Sonnay, Klodjan Stafa, Darren Moore, Agata Podhajska, Alessandra Musso, Alzbeta Trancikova

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 Science2012

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

Liliane Glauser, Sarah Catherine Sonnay, Klodjan Stafa, Darren Moore, David Ramonet Jimenez, Agata Podhajska, Alzbeta Trancikova, Elpida Tsika

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