Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.T351P
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PRKN

NM_004562.3:p.T351P

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.

Li B et al.

Circulation, 2024

38362779 (PubMed )
Supplement: cir-149-1268-s001.pdf

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK2

Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.

Biswas S et al.

Applied Biochemistry and Biotechnology, 2021

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 2016

Site-specific Interaction Mapping of Phosphorylated Ubiquitin to Uncover Parkin Activation.

Yamano K et al.

The Journal of Biological Chemistry, 2015

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Li X et al.

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

Parkin structure and function.

Seirafi M et al.

The Febs Journal, 2015

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.

Beasley SA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

Parkin-associated Parkinson's disease.

von Coelln R et al.

Cell and Tissue Research, 2004

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 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."