Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.L10P
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PARK7

NM_007262.5:p.L10P

Associated Papers

Interaction Between α-Synuclein and DJ-1 in Parkinson's Disease.

Sobhifar P et al.

Brain Sciences, 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.

Benjamin-Zukerman T et al.

Brain : a Journal of Neurology, 2024

The reversible low-temperature instability of human DJ-1 oxidative states.

Andrews T et al.

Biopolymers, 2024

Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.

Fujita M et al.

Frontiers in Neuroscience, 2024

38817911 (PubMed )
Supplement: Table_1.DOCX

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

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 › PARK7

Unfolding is the driving force for mitochondrial import and degradation of the Parkinson's disease-related protein DJ-1.

Queliconi BB et al.

Journal of Cell Science, 2021

Mitochondrial LonP1 protease is implicated in the degradation of unstable Parkinson's disease-associated DJ-1/PARK 7 missense mutants.

Sánchez-Lanzas R et al.

Scientific Reports, 2021

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P).

Li Y et al.

Stem Cell Research, 2020

DJ-1 can form β-sheet structured aggregates that co-localize with pathological amyloid deposits.

Solti K et al.

Neurobiology of Disease, 2020

DJ-1 in Parkinson's Disease: Clinical Insights and Therapeutic Perspectives.

Repici M et al.

Journal of Clinical Medicine, 2019

Protein kinase A-induced phosphorylation at the Thr154 affects stability of DJ-1.

Ko YU et al.

Parkinsonism & Related Disorders, 2019

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro.

Matsuda N et al.

Scientific Reports, 2017

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

L10P mutation in DJ-1 gene induced oxidative stress and mitochondrial disfunction.

Guo J et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2015

Transient sampling of aggregation-prone conformations causes pathogenic instability of a parkinsonian mutant of DJ-1 at physiological temperature.

Milkovic NM et al.

Protein Science : a Publication of the Protein Society, 2015

A Two-step Protein Quality Control Pathway for a Misfolded DJ-1 Variant in Fission Yeast.

Mathiassen SG et al.

The Journal of Biological Chemistry, 2015

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.

Ryan BJ et al.

Trends in Biochemical Sciences, 2015

Use of cysteine-reactive cross-linkers to probe conformational flexibility of human DJ-1 demonstrates that Glu18 mutations are dimers.

Prahlad J et al.

Journal of Neurochemistry, 2014

DJ-1 interactions with α-synuclein attenuate aggregation and cellular toxicity in models of Parkinson's disease.

Zondler L et al.

Cell Death & Disease, 2014

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.

Sironi F et al.

Neuroscience Letters, 2013

Parkinson's disease-associated DJ-1 mutations increase abnormal phosphorylation of tau protein through Akt/GSK-3β pathways.

Wang Y et al.

Journal of Molecular Neuroscience : Mn, 2013

Edaravone prevents neurotoxicity of mutant L166P DJ-1 in Parkinson's disease.

Li B et al.

Journal of Molecular Neuroscience : Mn, 2013

Parkinson's disease-associated mutations in DJ-1 modulate its dimerization in living cells.

Repici M et al.

Journal of Molecular Medicine (berlin, Germany), 2013

L166P mutant DJ-1 promotes cell death by dissociating Bax from mitochondrial Bcl-XL.

Ren H et al.

Molecular Neurodegeneration, 2012

Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson disease, is due to direct endoproteolytic cleavage by the proteasome.

Alvarez-Castelao B et al.

Biochimica Et Biophysica Acta, 2012

Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.

Guo JF et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2011

L10p and P158DEL DJ-1 mutations cause protein instability, aggregation, and dimerization impairments.

Ramsey CP et al.

Journal of Neuroscience Research, 2010

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

Recent progress in neurodegenerative disorder research in China.

Zhou J

Science China. Life Sciences, 2010

A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.

Wang L et al.

Chinese Medical Journal, 2009

Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.

Guo JF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

[Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].

Guo JF et al.

Zhonghua Yi Xue Za Zhi, 2006

[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].

Guo JF et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].

Guo JF et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

[Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6].

Zhang YH et al.

Zhonghua Yi Xue Za Zhi, 2005

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