Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

scientific article published on 13 February 2013

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/WNL.0B013E31828727D4
P932PMC publication ID3653206
P698PubMed publication ID23408866

P50authorEden R MartinQ67215561
Gary W BeechamQ124706380
Jeffery M. VanceQ30362072
Stephan ZüchnerQ30500867
Daniel D KinnamonQ46343676
Güney BademciQ46520424
P2093author name stringWilliam K Scott
Arpit Mehta
Liyong Wang
Vanessa Inchausti
Karen Nuytemans
Amy Dressen
P2860cites workA serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell deathQ24291746
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismQ24309753
Parkin is recruited selectively to impaired mitochondria and promotes their autophagyQ24317471
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismQ24321359
Hereditary early-onset Parkinson's disease caused by mutations in PINK1Q24337084
Identification of VPS35 mutations replicated in French families with Parkinson diseaseQ59697029
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson diseaseQ24531223
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson diseaseQ24596763
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseQ24633417
Mutation in the alpha-synuclein gene identified in families with Parkinson's diseaseQ27860459
A method and server for predicting damaging missense mutationsQ27860835
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseQ28116395
Translation initiator EIF4G1 mutations in familial Parkinson diseaseQ28247679
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's diseaseQ28257086
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's diseaseQ28292932
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutantsQ29615627
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkinQ29615684
ESEfinder: A web resource to identify exonic splicing enhancersQ29616126
Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approachQ33833978
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's diseaseQ33858726
Rare-variant association testing for sequencing data with the sequence kernel association testQ33954046
Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variantsQ34169930
The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localizationQ34836156
VPS35 mutations in Parkinson diseaseQ35103751
Screening for VPS35 mutations in Parkinson's diseaseQ36775809
Study of the genetic variability in a Parkinson's Disease gene: EIF4G1Q37162224
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's diseaseQ39601078
Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian populationQ43436466
VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese populationQ46295075
Improved splice site detection in GenieQ46338894
Analysis of donor splice sites in different eukaryotic organismsQ52261602
Prevalence of Parkinson's disease in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research GroupQ57273925
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectParkinson's diseaseQ11085
P304page(s)982-989
P577publication date2013-02-13
P1433published inNeurologyQ1161692
P1476titleWhole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
P478volume80

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cites work (P2860)
Q92586724Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician
Q57178432Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects
Q38121773Advances in the genetics of Parkinson disease
Q34658348Application of next-generation sequencing technologies in Neurology
Q55058366Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Q64876559Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality
Q40279223Commentary: Parkinson's Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein
Q38985873Cutaneous malignant melanoma and Parkinson disease: Common pathways?
Q37053959Decoding Parkinson's Disease Pathogenesis: The Role of Deregulated mRNA Translation
Q33665756EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population
Q48256432EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts
Q47320399Epigenetics in Parkinson's Disease
Q38233866Genetics and genomics of Parkinson's disease
Q28077356Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance
Q34550197Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways
Q64248689Golgi Complex Dynamics and Its Implication in Prevalent Neurological Disorders
Q28115600Identification of TMEM230 mutations in familial Parkinson's disease
Q35557260Identification of synaptosomal proteins binding to monomeric and oligomeric α-synuclein.
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Q37187461Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Q37098159Whole-Exome Sequencing in Familial Parkinson Disease

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