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

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 resulting in a loss-of-function. Recently, homozygou...

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Detalles Bibliográficos
Autores principales: Podhajska, Agata, Musso, Alessandra, Trancikova, Alzbeta, Stafa, Klodjan, Moser, Roger, Sonnay, Sarah, Glauser, Liliane, Moore, Darren J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386943/
https://www.ncbi.nlm.nih.gov/pubmed/22768177
http://dx.doi.org/10.1371/journal.pone.0039942

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