Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E28insFs
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PRKN

NM_004562.3:p.E28insFs

Associated Papers

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.

Koros C et al.

Genes, 2024

The Genetic Etiology of Parkinson's Disease Does Not Robustly Affect Subthalamic Physiology.

Weill C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.

Macías-García D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

34859503 (PubMed )
Supplement: supplement_1.docx

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.

Behl T et al.

Translational Neurodegeneration, 2021

Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.

Lopez G et al.

Annals of Neurology, 2020

A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

Aflaki E et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Barrett MJ et al.

Journal of Inherited Metabolic Disease, 2013

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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."