Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.S65N
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PRKN

NM_004562.3:p.S65N

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Mechanism of phospho-Ubls' specificity and conformational changes that regulate Parkin activity.

Lenka DR et al.

Structure (london, England : 1993), 2024

Deficiency of parkin causes neurodegeneration and accumulation of pathological α-synuclein in monkey models.

Han R et al.

The Journal of Clinical Investigation, 2024

Additional feedforward mechanism of Parkin activation via binding of phospho-UBL and RING0 in trans.

Lenka DR et al.

Elife, 2024

Structural Mechanisms of Mitochondrial Quality Control Mediated by PINK1 and Parkin.

Trempe JF et al.

Journal of Molecular Biology, 2023

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Structural basis for feedforward control in the PINK1/Parkin pathway.

Sauvé V et al.

The Embo Journal, 2022

35491809 (PubMed )
Supplement: EMBJ-41-e109460-s002.pdf

Global ubiquitylation analysis of mitochondria in primary neurons identifies endogenous Parkin targets following activation of PINK1.

Antico O et al.

Science Advances, 2021

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S2.2_Overall_SNV_small_indels

Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.

McWilliams TG et al.

Open Biology, 2018

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 2014

Rapid eye movement sleep behavior disorder in parkinsonism with parkin mutations.

Kumru H et al.

Annals of Neurology, 2004

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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."