Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Trends in Genetics

• Publication date

  2015-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.tig.2015.01.004PMID 25703649
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2014cited by this paper
• EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

  2014cited by this paper
• RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation

  2014cited by this paper
• Low clinical diagnostic accuracy of early vs advanced Parkinson disease

  2014cited by this paper
• Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy

  2014cited by this paper
• Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

  2014cited by this paper
• Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

  2014cited by this paper
• Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.

  2014cited by this paper
• An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

  2014cited by this paper
• DNAJC13 mutations in Parkinson disease.

  2014cited by this paper
• Alpha‐synuclein repeat variants and survival in Parkinson's disease

  2014cited by this paper
• The Vps35 D620N Mutation Linked to Parkinson's Disease Disrupts the Cargo Sorting Function of Retromer

  2014cited by this paper
• Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

  2014cited by this paper
• PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

  2014cited by this paper
• Genetics of Parkinson's disease: the yield.

  2014cited by this paper
• Retromer Binding to FAM21 and the WASH Complex Is Perturbed by the Parkinson Disease-Linked VPS35(D620N) Mutation

  2014cited by this paper
• Methylation of α-synuclein and leucine-rich repeat kinase 2 in leukocyte DNA of Parkinson's disease patients.

  2014cited by this paper
• Finding the lost treasures in exome sequencing data.

  2013cited by this paper
• Mutations in COQ2 in familial and sporadic multiple-system atrophy.

  2013cited by this paper
• The Parkinson’s disease genes Fbxo7 and Parkin interact to mediate mitophagy

  2013cited by this paper
• Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

  2013cited by this paper
• Comparative Studies of Copy Number Variation Detection Methods for Next-Generation Sequencing Technologies

  2013cited by this paper
• The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early‐Onset Progressive Parkinsonism with Generalized Seizures

  2013cited by this paper
• Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early‐Onset Parkinsonism

  2013cited by this paper
• Obstacles to the Development of a Neuroprotective Therapy for Parkinson's Disease

  2013cited by this paper
• Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

  2013cited by this paper
• Lysosomal impairment in Parkinson's disease

  2013cited by this paper
• Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

  2013cited by this paper
• Disease-targeted sequencing: a cornerstone in the clinic

  2013cited by this paper
• Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.

  2013cited by this paper
• A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

  2013cited by this paper
• Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

  2013cited by this paper
• C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

  2013cited by this paper
• Interplay of LRRK2 with chaperone-mediated autophagy

  2013cited by this paper
• Restoring impaired protein metabolism in Parkinson's disease — TFEB‐mediated autophagy as a novel therapeutic target

  2013cited by this paper
• Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

  2013cited by this paper
• LRRK2: Cause, Risk, and Mechanism

  2013cited by this paper
• DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

  2013cited by this paper
• Distinctive patterns of DNA methylation associated with Parkinson disease

  2013cited by this paper
• The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

  2013cited by this paper
• Advances in the genetics of Parkinson disease

  2013cited by this paper
• Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease

  2012cited by this paper
• The retromer complex – endosomal protein recycling and beyond

  2012cited by this paper
• Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

  2012cited by this paper
• α-Synuclein Genetic Variants Predict Faster Motor Symptom Progression in Idiopathic Parkinson Disease

  2012cited by this paper
• Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

  2012cited by this paper
• Meta‐analysis of Parkinson's Disease: Identification of a novel locus, RIT2

  2012cited by this paper
• A Search for SNCA 3′ UTR Variants Identified SNP rs356165 as a Determinant of Disease Risk and Onset Age in Parkinson’s Disease

  2012cited by this paper
• Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

  2012cited by this paper
• Vitamin K2 Is a Mitochondrial Electron Carrier That Rescues Pink1 Deficiency

  2012cited by this paper
• A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

  2012cited by this paper
• ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

  2012cited by this paper
• ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons.

  2012cited by this paper
• Exome sequencing: Dual role as a discovery and diagnostic tool

  2012cited by this paper
• Monomeric Synucleins Generate Membrane Curvature*

  2012cited by this paper
• Large-scale replication and heterogeneity in Parkinson disease genetic loci

  2012cited by this paper
• The synaptic function of LRRK2.

  2012cited by this paper
• EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

  2012cited by this paper
• α-Synuclein in Parkinson's disease.

  2012cited by this paper
• LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis.

  2012cited by this paper
• Genome-wide association study confirms extant PD risk loci among the Dutch

  2011cited by this paper
• Prorenin receptor is essential for podocyte autophagy and survival.

  2011cited by this paper
• α-synuclein and Parkinson Disease

  2011cited by this paper
• Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy

  2011cited by this paper
• A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

  2011cited by this paper
• Projected numbers of people with movement disorders in the years 2030 and 2050

  2011cited by this paper
• Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.

  2011cited by this paper
• The curious case of phenocopies in families with genetic Parkinson's disease

  2011cited by this paper
• A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

  2011cited by this paper
• Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

  2011cited by this paper
• A sequential mechanism for clathrin cage disassembly by 70-kDa heat-shock cognate protein (Hsc70) and auxilin

  2011cited by this paper
• Translation initiator EIF4G1 mutations in familial Parkinson disease.

  2011cited by this paper
• Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

  2011cited by this paper
• VPS35 mutations in Parkinson disease.

  2011cited by this paper
• Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

  2011cited by this paper
• Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

  2011cited by this paper
• The heritability of risk and age at onset of Parkinson's disease after accounting for known genetic risk factors

  2010cited by this paper
• Methylation Regulates Alpha-Synuclein Expression and Is Decreased in Parkinson's Disease Patients' Brains

  2010cited by this paper
• Requirement of Prorenin Receptor and Vacuolar H+-ATPase–Mediated Acidification for Wnt Signaling

  2010cited by this paper
• Overview of personalized medicine in the disease genomic era.

  2010cited by this paper
• Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease

  2010cited by this paper
• Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update

  2010cited by this paper
• CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease

  2010cited by this paper
• Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

  2009cited by this paper
• Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

  2009cited by this paper
• Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions.

  2009cited by this paper
• Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

  2009cited by this paper
• Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

  2009cited by this paper
• Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria.

  2009cited by this paper
• SNCA variants are associated with increased risk for multiple system atrophy

  2009cited by this paper
• PINK1-dependent recruitment of Parkin to mitochondria in mitophagy

  2009cited by this paper
• Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders.

  2008cited by this paper
• The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

  2008cited by this paper
• Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.

  2008cited by this paper
• Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

  2008cited by this paper
• Genome-wide association studies for complex traits: consensus, uncertainty and challenges

  2008cited by this paper
• Multiple alpha‐synuclein gene polymorphisms are associated with Parkinson’s disease in a Norwegian population

  2008cited by this paper
• alpha-Synuclein and Parkinson disease susceptibility.

  2007cited by this paper
• Functional architecture of the retromer cargo-recognition complex

  2007cited by this paper
• Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

  2007cited by this paper

• Retinal Imaging Techniques for Neurodegenerative Diseases: Parkinson's Disease and Beyond

  2025cites this paper
• Actinomyces viscosus promotes neuroprotection in C. elegans models of Parkinson's disease.

  2025cites this paper
• ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.

  2025cites this paper
• Nutraceutical Strategies for Targeting Mitochondrial Dysfunction in Neurodegenerative Diseases

  2025cites this paper
• Greenness and Parkinson’s disease prevalence: a national cross-sectional study in China

  2025cites this paper
• The Inflammatory Mechanism of Parkinson’s Disease: Gut Microbiota Metabolites Affect the Development of the Disease Through the Gut–Brain Axis

  2025cites this paper
• Outlook of SNCA (α-synuclein) transgenic fly models in delineating the sequel of mitochondrial dysfunction in Parkinson's disease.

  2025cites this paper
• Cellular and molecular mechanisms of the blood–brain barrier dysfunction in neurodegenerative diseases

  2024cites this paper
• DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency

  2024cites this paper
• In vivo and ex vivo gene therapy for neurodegenerative diseases: a promise for disease modification

  2024influential citation
• Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson’s Disease

  2024cites this paper
• Integrative approach of omics and imaging data to discover new insights for understanding brain diseases

  2024cites this paper
• The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives.

  2024cites this paper
• An Overview of Epigenetic Changes in the Parkinson’s Disease Brain

  2024cites this paper
• Aging-related biomarkers for the diagnosis of Parkinson’s disease based on bioinformatics analysis and machine learning

  2024cites this paper
• Detection of rare Genetic Variations in the promoter regions of the ATG16L gene in Parkinson's patients.

  2023cites this paper
• Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson’s Disease in Italian Patients

  2023cites this paper
• Mitochondria in Health, Disease, and Ageing.

  2023cites this paper
• Circular RNAs in Parkinson’s Disease: Reliable Biological Markers and Targets for Rehabilitation

  2023cites this paper
• Comparative Genetic Analysis of the Promoters of the ATG16L1 and ATG5 Genes Associated with Sporadic Parkinson’s Disease

  2023cites this paper
• Parkinson's genetics research on underrepresented AfrAbia populations: current state and future prospects.

  2023cites this paper
• Sphingolipids in neurodegenerative diseases

  2023cites this paper
• Leveraging genetic diversity to understand monogenic Parkinson's disease's landscape in AfrAbia.

  2023cites this paper
• Uncovering the Molecular Link Between Lead Toxicity and Parkinson's Disease

  2023cites this paper
• An Overview of Animal Models and Symptomatic Treatment of Parkinson’s disease

  2023cites this paper
• Susceptibility to Neurodegenerative Disorders: Insights from Paleogenomic Data

  2023cites this paper
• Uncovering the Role of Natural and Synthetic Small Molecules in Counteracting the Burden of α-Synuclein Aggregates and Related Toxicity in Different Models of Parkinson’s Disease

  2023cites this paper
• Promising biomarkers and therapeutic targets for the management of Parkinson's disease: recent advancements and contemporary research

  2023cites this paper
• Dithianon exposure induces dopaminergic neurotoxicity in Caenorhabditis elegans.

  2023cites this paper
• Paraquat and Parkinson’s Disease: The Molecular Crosstalk of Upstream Signal Transduction Pathways Leading to Apoptosis

  2023cites this paper
• Sex and Brain: The Role of Sex Chromosomes and Hormones in Brain Development and Parkinson’s Disease

  2023cites this paper
• Natural product-based pharmacological studies for neurological disorders

  2022cites this paper
• Role of Tau in Various Tauopathies, Treatment Approaches, and Emerging Role of Nanotechnology in Neurodegenerative Disorders

  2022cites this paper
• Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases

  2022cites this paper
• Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson’s Disease

  2022cites this paper
• Mitochondrial Dysfunction in Parkinson’s Disease: From Mechanistic Insights to Therapy

  2022cites this paper
• Methylation of alpha-synuclein in a Sudanese cohort.

  2022cites this paper
• The Anti-Parkinson Potential of Gingko biloba-Supplement Mitigates Cortico-Cerebellar Degeneration and Neuropathobiological Alterations via Inflammatory and Apoptotic Mediators in Mice

  2022cites this paper
• Selenium Effects on Oxidative Stress-Induced Calcium Signaling Pathways in Parkinson’s Disease

  2022cites this paper
• Altered neural cell junctions and ion-channels leading to disrupted neuron communication in Parkinson’s disease

  2022cites this paper
• Hallmarks and Molecular Tools for the Study of Mitophagy in Parkinson’s Disease

  2022cites this paper
• Desferrioxamine Ameliorates Lipopolysaccharide-Induced Lipocalin-2 Upregulation via Autophagy Activation in Primary Astrocytes

  2022cites this paper
• Parkinson’s Disease Subtyping Using Clinical Features and Biomarkers: Literature Review and Preliminary Study of Subtype Clustering

  2022cites this paper
• Psychiatric Comorbidities in Parkinson's Disease Seen through the Prism of Genomics and Epigenetics.

  2021cites this paper
• From Neurodevelopmental to Neurodegenerative Disorders: The Vascular Continuum

  2021cites this paper
• Neurotoxin-Induced Rodent Models of Parkinson’s Disease: Benefits and Drawbacks

  2021cites this paper
• Neurodegenerative disorders and the current state, pathophysiology and management of Parkinson's disease.

  2021cites this paper
• Allosteric Inhibition of Parkinson's-Linked LRRK2 by Constrained Peptides.

  2021cites this paper
• Identification of sixteen novel candidate genes for late onset Parkinson’s disease

  2021cites this paper
• Susceptibility to Neurodegenerative Disorders: Insights from Paleogenomic Data

  2021cites this paper
• Effect of Pramipexole on Inflammatory Response in Central Nervous System of Parkinson's Disease Rat Model.

  2021cites this paper
• Monitoring the neurotransmitter release of human midbrain organoids using a redox cycling microsensor as a novel tool for personalized Parkinson's disease modelling and drug screening.

  2021cites this paper
• Protective mechanism of Syringic acid in an experimental model of Parkinson’s disease

  2021cites this paper
• Invertebrate Models Untangle the Mechanism of Neurodegeneration in Parkinson’s Disease

  2021cites this paper
• Stress Response Is the Main Trigger of Sporadic Amyloidoses

  2021cites this paper
• Rab7 reduces α-synuclein toxicity in rats and primary neurons.

  2021cites this paper
• Neuroproteomics: How a Multitude of Proteins Reflect Brain Functions

  2021cites this paper
• Atremorine in Parkinson's disease: From dopaminergic neuroprotection to pharmacogenomics

  2021cites this paper
• Precision medicine in Parkinson’s disease patients with LRRK2 and GBA risk variants – Let’s get even more personal

  2020cites this paper
• Identification of Parkinson’s disease-related pathways and potential risk factors

  2020cites this paper
• From Synaptic Dysfunction to Neuroprotective Strategies in Genetic Parkinson’s Disease: Lessons From LRRK2

  2020cites this paper
• The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation

  2020cites this paper
• Extended Study of NUS1 Gene Variants in Parkinson's Disease

  2020cites this paper
• Epigenetic Vulnerability of Insulator CTCF Motifs at Parkinson’s Disease-Associated Genes in Response to Neurotoxicant Rotenone

  2020cites this paper
• SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population

  2020cites this paper
• Long noncoding RNA NEAT1 knockdown inhibits MPP+-induced apoptosis, inflammation and cytotoxicity in SK-N-SH cells by regulating miR-212-5p/RAB3IP axis.

  2020cites this paper
• Brain-targeted nanoparticles to overcome the blood-brain barrier

  2020cites this paper
• Expression analysis of genes involved in mitochondrial biogenesis in mice with MPTP-induced model of Parkinson's disease

  2020cites this paper
• Mitochondrial Homeostasis and Signaling in Parkinson’s Disease

  2020cites this paper
• Autophagy Inhibitor 3-Methyladenine could not Modulate Rotenone Neurotoxicity in Primary Mesencephalic Cell Culture

  2020cites this paper
• Verhaltens- und Neurogenetik

  2020cites this paper
• Doctoral School of Interdisciplinary Medicine EPIDEMIOLOGY OF PARKINSON’S DISEASE QUALITY OF LIFE AS A CHALLENGE FOR REHABILITATION PhD Thesis

  2020cites this paper
• Genome plasticity and neuropsychiatric disorders

  2020cites this paper
• Celecoxib promotes survival and upregulates the expression of neuroprotective marker genes in two different in vitro models of Parkinson's disease.

  2020cites this paper
• Improvements of Motor Performances in the Drosophila LRRK2 Loss-of-Function Model of Parkinson’s Disease: Effects of Dialyzed Leucocyte Extracts from Human Serum

  2020cites this paper
• DNA methylation in Parkinson disease

  2020cites this paper
• Mitochondrial Signatures in Circulating Extracellular Vesicles of Older Adults with Parkinson’s Disease: Results from the EXosomes in PArkiNson’s Disease (EXPAND) Study

  2020cites this paper
• Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population

  2020cites this paper
• Mutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export

  2020cites this paper
• Personality, stress and risk of Parkinson's disease

  2020cites this paper
• Transcriptomic profiles in Parkinson’s disease

  2020influential citation
• Environmental and genetic risk factors for Parkinson's disease

  2020cites this paper
• Identification of the CD200R1 promoter and the association of its polymorphisms with the risk of Parkinson’s disease

  2020cites this paper
• Autophagy and Redox Homeostasis in Parkinson's: A Crucial Balancing Act

  2020cites this paper
• Stochastic Considerations into the Origins of Sporadic Adult Onset Neurodegenerative Disorders

  2019influential citation
• Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements

  2019cites this paper
• Synergistic Effect of Mitochondrial and Lysosomal Dysfunction in Parkinson’s Disease

  2019cites this paper
• Novel Approaches for the Treatment of Alzheimer’s and Parkinson’s Disease

  2019cites this paper
• Balancing mTOR Signaling and Autophagy in the Treatment of Parkinson’s Disease

  2019cites this paper
• Therapeutic Potential of Baicalein in Parkinson’s Disease: Focus on Inhibition of α-Synuclein Oligomerization and Aggregation

  2019cites this paper
• Targeting the Dopaminergic System in Autoimmunity

  2019cites this paper
• Dysregulated Lipid Metabolism and Its Role in α-Synucleinopathy in Parkinson’s Disease

  2019cites this paper
• Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

  2019cites this paper
• Cross Disease Network Analysis

  2019cites this paper
• Blood-Brain Barrier: From Physiology to Disease and Back.

  2019cites this paper
• Age-dependent accumulation of oligomeric SNCA/α-synuclein from impaired degradation in mutant LRRK2 knockin mouse model of Parkinson disease: role for therapeutic activation of chaperone-mediated autophagy (CMA)

  2019cites this paper
• Impaired dopamine metabolism in Parkinson’s disease pathogenesis

  2019influential citation
• Effects of curcumin on mitochondria in neurodegenerative diseases

  2019cites this paper
• Pharmacokinetics, Pharmacodynamics, and Safety of a Single Escalating Dose and Repeated Doses of Rasagiline Transdermal Patch in Healthy Chinese Subjects

  2019cites this paper
• A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population.

  2019cites this paper