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Article

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Nature genetics - 1 Oct 2006

Ramirez Alfredo, Heimbach André, Gründemann Jan, Stiller Barbara, Hampshire Dan, Cid L Pablo, Goebel Ingrid, Mubaidin Ammar F, Wriekat Abdul-Latif, Roeper Jochen, Al-Din Amir, Hillmer Axel M, Karsak Meliha, Liss Birgit, Woods C Geoffrey, Behrens Maria I, Kubisch Christian

Abstract excerpt

Neurodegenerative disorders such as Parkinson and Alzheimer disease cause motor and cognitive dysfunction and belong to a heterogeneous group of common and disabling disorders. Although the complex molecular pathophysiology of neurodegeneration is largely unknown, major advances have been achieved by elucidating the genetic defects underlying mendelian forms of these diseases. This has led to the discovery of...

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PMID: 16964263
DOI: 10.1038/ng1884

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.PMID 16964263Read ↗

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

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.Semantic proximity Read ↗

Lysosomal dysfunction in Parkinson diseaseSemantic proximity Read ↗

Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicitySemantic proximity Read ↗

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegenerationSemantic proximity Read ↗

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.Semantic proximity Read ↗

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity.Semantic proximity Read ↗

The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson’s DiseaseSemantic proximity Read ↗

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Semantic proximity Read ↗

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.Semantic proximity Read ↗

Functional characterization of ATP13A2 variants associated with distinct neurodegenerative disordersSemantic proximity Read ↗

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.Semantic proximity Read ↗

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