Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.D508N
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ATP13A2

NM_001141974.3:p.D508N

Associated Papers

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Colijn MA et al.

Neurogenetics, 2024

Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H+,K+-ATPase.

Fujii T et al.

Nature Communications, 2023

Conformational cycle of human polyamine transporter ATP13A2.

Mu J et al.

Nature Communications, 2023

37031211 (PubMed )
Supplement: 41467_2023_37741_MOESM1_ESM.pdf

ATP13A2 (PARK9) and basal ganglia function.

Croucher KM et al.

Frontiers in Neurology, 2023

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

35893043 (PubMed )
Supplement: genes-13-01306-s001.zip › genes-1768203-supplementary.pdf

Rodent models based on endolysosomal genes involved in Parkinson's disease.

Sanchiz-Calvo M et al.

Current Opinion in Neurobiology, 2022

Structural basis of polyamine transport by human ATP13A2 (PARK9).

Sim SI et al.

Molecular Cell, 2021

ATP13A2 deficiency disrupts lysosomal polyamine export.

van Veen S et al.

Nature, 2020

α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9).

Daniel G et al.

Neurobiology of Disease, 2015

Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants.

Covy JP et al.

Journal of Neuroscience Research, 2012

Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.

Podhajska A et al.

Plos One, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."