ArticleMolecular brain2020
Characterization of a pathogenic variant in GBA for Parkinson's disease with mild cognitive impairment patients.
Article in Molecular brain, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Colorectal cancer metastasis to the brain: A scoping review of incidence, treatment, and outcomes.World journal of gastrointestinal pathophysiology · 2025Article
- The Single Nucleotide Substitution T → A rs2072580 Damages the CREB1 Binding Site in the BidirectionalGenes · 2025Article
- Neural basis of dysexecutive and visuospatial impairments in Parkinson's disease with MCI: a task-based fNIRS study.NPJ Parkinson's disease · 2025Article
- Neur-Ally: a deep learning model for regulatory variant prediction based on genomic and epigenomic features in brain and its validation in certain neurological disorders.NAR genomics and bioinformatics · 2025Article
- Abundant repressor binding sites in human enhancers are associated with the fine-tuning of gene regulation.iScience · 2025Article
- The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.Molecular neurobiology · 2024Review
- Plasma miR-203a-3p as a Novel Predictor of Dementia in Patients with Parkinson's Disease.International journal of molecular sciences · 2024Article
- Mild cognitive impairment in Parkinson's disease: current view.Frontiers in cognition · 2024Review
- Pathobiology of Cognitive Impairment in Parkinson Disease: Challenges and Outlooks.International journal of molecular sciences · 2023Review
- Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.Life (Basel, Switzerland) · 2023Review
- Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.Journal of molecular biology · 2023Review
- MAPKAPK2, a potential dynamic network biomarker of α-synuclein prior to its aggregation in PD patients.NPJ Parkinson's disease · 2023Article
- Machine learning-based prediction of cognitive outcomes in de novo Parkinson's disease.NPJ Parkinson's disease · 2022Article
- E2F4DN Transgenic Mice: A Tool for the Evaluation of E2F4 as a Therapeutic Target in Neuropathology and Brain Aging.International journal of molecular sciences · 2022Review
- CRISPR-Cas9-Based Technology and Its Relevance to Gene Editing in Parkinson's Disease.Pharmaceutics · 2022Review
- Pleiotropic Effects of FunctionalInternational journal of molecular sciences · 2021Article
- Parkinson disease-associated cognitive impairment.Nature reviews. Disease primers · 2021Review
- Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.International journal of molecular sciences · 2021Review
- Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.Translational neurodegeneration · 2021Review
- Gene Therapy for Neurodegenerative Disease: Clinical Potential and Directions.Frontiers in molecular neuroscience · 2021Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson's disease (PD) is the second most common neurodegenerative disease, and mild cognitive impairment (MCI) is a well-established risk factor for the development of dementia in PD. A growing body of evidence suggests that low expression of glucocerebrosidase (GBA) promotes the transmission of α-synuclein (α-Syn) interpolymers and the progression of PD. However, how GBA mutations affect the pathogenesis of PD via abnormal aggregation of α-Syn is unclear, and no clinically valid PD-MCI genetic markers have been identified. Here, we first located a GBA eQTL, rs12411216, by analysing DHS, eQTL SNP, and transcription factor binding site data using the UCSC database. Subsequently, we found that rs12411216 was significantly associated with PD-MCI (P < 0.05) in 306 PD patients by genotyping. In exploring the relationship between rs12411216 and GBA expression, the SNP was found to be associated with GBA expression in 50 PD patients through qPCR verification. In a further CRISPR/Cas9-mediated genome editing module, the SNP was identified to cause a decrease in GBA expression, weaken enzymatic activity and enhance the abnormal aggregation of α-Syn in SH-SY5Y cells. Additionally, using an electrophoretic mobility shift assay, we confirmed that the binding efficiency of transcription factor E2F4 was affected by the rs12411216 SNP. In conclusion, our results showed that rs12411216 regulated GBA expression, supporting its potential role as a PD-MCI genetic biomarker and highlighting novel mechanisms underlying Parkinson's disease.
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