Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.R449Q
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ATP13A2

NM_022089.4:p.R449Q

Associated Papers

Pathophysiological Roles of Two Intracellular P-Type ATPases: The Cancer-Associated Na+,K+-ATPase α3 Isoform and the Parkinson's Disease-Related ATP13A2.

Fujii T et al.

International Journal of Molecular Sciences, 2026

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Roy S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG78

Lysosomal dysfunction in α-synuclein pathology: molecular mechanisms and therapeutic strategies.

Dai L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

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

Fujii T et al.

Nature Communications, 2023

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Salles PA et al.

Journal of Parkinson's Disease, 2022

Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.

Chen X et al.

Cell Discovery, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A et al.

Brain : a Journal of Neurology, 2017

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

Park JS et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X et al.

Biomed Research International, 2014

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Eiberg H et al.

Clinical Genetics, 2012

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Djarmati A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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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."