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Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease

https://doi.org/10.3389/fneur.2020.576465

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/humu.22372openalex-snapshot

The Sac1 Domain of SYNJ 1 Identified Mutated in a Family with Early‐Onset Progressive P arkinsonism with Generalized Seizures

inferredcites →https://doi.org/10.1002/humu.22373openalex-snapshot

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

inferredcites →https://doi.org/10.1007/s00439-008-0582-9openalex-snapshot

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

inferredcites →https://doi.org/10.1016/j.ajhg.2016.01.014openalex-snapshot

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

inferredcites →https://doi.org/10.1016/j.arr.2017.12.007openalex-snapshot

The genetics of Parkinson disease

inferredcites →https://doi.org/10.1016/j.bbrc.2004.03.110openalex-snapshot

Cysteine-106 of DJ-1 is the most sensitive cysteine residue to hydrogen peroxide-mediated oxidation in vivo in human umbilical vein endothelial cells

inferredcites →https://doi.org/10.1016/j.jmb.2005.12.030openalex-snapshot

The Oxidation State of DJ-1 Regulates its Chaperone Activity Toward α-Synuclein

inferredcites →https://doi.org/10.1016/j.nbd.2012.02.002openalex-snapshot

A large study reveals no association between APOE and Parkinson's disease

inferredcites →https://doi.org/10.1016/j.neuron.2004.10.023openalex-snapshot

Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

inferredcites →https://doi.org/10.1016/j.neuron.2004.11.005openalex-snapshot

Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology

inferredcites →https://doi.org/10.1016/j.neuron.2007.10.032openalex-snapshot

The Dual Phosphatase Activity of Synaptojanin1 Is Required for Both Efficient Synaptic Vesicle Endocytosis and Reavailability at Nerve Terminals

inferredcites →https://doi.org/10.1016/s1474-4422(10)70325-2openalex-snapshot

Apolipoprotein E in Alzheimer's disease and other neurological disorders

inferredcites →https://doi.org/10.1016/s1474-4422(14)70266-2openalex-snapshot

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

inferredcites →https://doi.org/10.1016/s1474-4422(19)30320-5openalex-snapshot

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

inferredcites →https://doi.org/10.1038/33416openalex-snapshot

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

inferredcites →https://doi.org/10.1038/379353a0openalex-snapshot

A presynaptic inositol-5-phosphatase

inferredcites →https://doi.org/10.1038/456018aopenalex-snapshot

Personal genomes: The case of the missing heritability

inferredcites →https://doi.org/10.1038/nature08494openalex-snapshot

Finding the missing heritability of complex diseases

inferredcites →https://doi.org/10.1038/ng.3043openalex-snapshot

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

inferredcites →https://doi.org/10.1038/ng.3955openalex-snapshot

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

inferredcites →https://doi.org/10.1038/ng.485openalex-snapshot

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

inferredcites →https://doi.org/10.1038/ng1884openalex-snapshot

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

inferredcites →https://doi.org/10.1038/nn.2100openalex-snapshot

Oligomeric amyloid-β peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism

inferredcites →https://doi.org/10.1038/s41586-020-2308-7openalex-snapshot

The mutational constraint spectrum quantified from variation in 141,456 humans

inferredcites →https://doi.org/10.1073/pnas.0402959101openalex-snapshot

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

inferredcites →https://doi.org/10.1073/pnas.0709379104openalex-snapshot

The Parkinson's disease gene DJ-1 is also a key regulator of stroke-induced damage

inferredcites →https://doi.org/10.1080/10715760100300831openalex-snapshot

Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat

inferredcites →https://doi.org/10.1086/496902openalex-snapshot

High-Resolution Whole-Genome Association Study of Parkinson Disease

inferredcites →https://doi.org/10.1086/519795openalex-snapshot

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

inferredcites →https://doi.org/10.1093/bioinformatics/btr330openalex-snapshot

The variant call format and VCFtools

inferredcites →https://doi.org/10.1093/brain/awaa064openalex-snapshot

Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease

inferredcites →https://doi.org/10.1093/brain/awh054openalex-snapshot

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease

inferredcites →https://doi.org/10.1093/hmg/ddq454openalex-snapshot

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

inferredcites →https://doi.org/10.1093/hmg/ddu616openalex-snapshot

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease†

inferredcites →https://doi.org/10.1093/jmcb/mjs025openalex-snapshot

Age- and diet-dependent requirement of DJ-1 for glucose homeostasis in mice with implications for human type 2 diabetes

inferredcites →https://doi.org/10.1093/nar/gkx978openalex-snapshot

jMorp: Japanese Multi Omics Reference Panel

inferredcites →https://doi.org/10.1093/nar/gky1120openalex-snapshot

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

inferredcites →https://doi.org/10.1097/wnr.0b013e32801254b6openalex-snapshot

Leucine-Rich Repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population

inferredcites →https://doi.org/10.1126/science.1096284openalex-snapshot

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

inferredcites →https://doi.org/10.1126/science.276.5321.2045openalex-snapshot

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

inferredcites →https://doi.org/10.1126/science.8346443openalex-snapshot

Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families

inferredcites →https://doi.org/10.1136/jnnp.51.6.745openalex-snapshot

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease.

inferredcites →https://doi.org/10.1155/2013/683920openalex-snapshot

Neuroprotective Function of DJ-1 in Parkinson’s Disease

inferredcites →https://doi.org/10.3892/ijmm.19.6.885openalex-snapshot

DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4457147openalex-extracted

Celastrus Orbiculatus Thunb. Extract Targeting Dj-1 Inhibits Non-Small Cell Lung Cancer Invasion and Metastasis Through Mitochondrial-Induced ROS Accumulation

inferred← citeshttps://doi.org/10.1016/j.jep.2023.116944openalex-snapshot

Celastrus orbiculatus Thunb. extract targeting DJ-1 inhibits non-small cell lung cancer invasion and metastasis through mitochondrial-induced ROS accumulation

inferred← citeshttps://doi.org/10.1016/j.neuron.2023.02.001openalex-snapshot

EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation

inferred← citeshttps://doi.org/10.1101/2022.04.29.490010openalex-snapshot

EndophilinA-dependent coupling between activity-dependent calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation

inferred← citeshttps://doi.org/10.14789/ejmj.jmj24-0052-popenalex-snapshot

Contribution of Genetics to Parkinson’s Disease and Future Prospects

inferred← citeshttps://doi.org/10.14789/jmj.jmj22-68.5-plopenalex-snapshot

Publications from Juntendo University Graduate School of Medicine, 2020 [3/6]

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