Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.G1014S
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ATP13A2

NM_022089.4:p.G1014S

Associated Papers

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

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

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

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Do MD et al.

Brain and Behavior, 2023

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

Chen X et al.

Cell Discovery, 2021

34728622 (PubMed )
Supplement: 41421_2021_334_MOESM1_ESM.pdf

Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.

Rayaprolu S et al.

Molecular and Cellular Neurosciences, 2018

Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.

Shen T et al.

Scientific Reports, 2018

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

Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.

Gao K et al.

Molecular Biology Reports, 2014

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

Yang X et al.

Biomed Research International, 2014

ATP13A2 variability in Taiwanese Parkinson's disease.

Chen CM et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011

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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."