ArticlePloS one2016
The 4p16.3 Parkinson Disease Risk Locus Is Associated with GAK Expression and Genes Involved with the Synaptic Vesicle Membrane.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Genomic convergence of locus-based GWAS meta-analysis identifies AXIN1 as a novel Parkinson's gene.Immunogenetics · 2018Pooled it
- Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Mapping the Brain Interaction Network of the Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) Targeted by Leucettinib-21 Using Affinity Chromatography.ACS pharmacology & translational science · 2026Article
- New insights into synaptic vesicle dysfunction in Parkinson's disease.Journal of Parkinson's disease · 2026Review
- Clathrin-mediated endocytosis as an axis for the etiopathogenesis of Parkinson's disease.Journal of cell science · 2026Review
- Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Transcriptomic imputation of genetic risk variants uncovers novel whole-blood biomarkers of Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.Biomolecules · 2023Review
- Imaging Endocytosis Dynamics in Health and Disease.Membranes · 2022Review
- Targeted disruption of GAK stagnates autophagic flux by disturbing lysosomal dynamics.International journal of molecular medicine · 2021Article
- Association ofFrontiers in genetics · 2021Article
- Comparative transcriptome analysis of Parkinson's disease and Hutchinson-Gilford progeria syndrome reveals shared susceptible cellular network processes.BMC medical genomics · 2020Article
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- DNAJC proteins and pathways to parkinsonism.The FEBS journal · 2019Review
- Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies.Frontiers in neuroscience · 2019Review
- Genetic risk factors in Parkinson's disease.Cell and tissue research · 2018Review
- Impacts of increased α-synuclein on clathrin-mediated endocytosis at synapses: implications for neurodegenerative diseases.Neural regeneration research · 2018Article
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Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWAS) have identified the GAK/DGKQ/IDUA region on 4p16.3 among the top three risk loci for Parkinson's disease (PD), but the specific gene and risk mechanism are unclear. Here, we report transcripts containing the 3' clathrin-binding domain of GAK identified by RNA deep-sequencing in post-mortem human brain tissue as having increased expression in PD. Furthermore, carriers of 4p16.3 PD GWAS risk SNPs show decreased expression of one of these transcripts, GAK25 (Gencode Transcript 009), which correlates with the expression of genes functioning in the synaptic vesicle membrane. Together, these findings provide strong evidence for GAK clathrin-binding- and J-domain transcripts' influence on PD pathogenicity, and for a role for GAK in regulating synaptic function in PD.
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Registered trials
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