The role of SCARB2 as susceptibility factor in P arkinson's disease
Open accessAbstract
Background Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. Methods We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls. Results We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02).
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In Alzheimer's disease, amyloid beta-containing amyloid plaques and neurofibrillary tau tangles accumulate in the hippocampus and limbic system and manifest as memory decline.
“For example, in Alzheimer’s disease (AD), amyloid beta (Aβ)-containing amyloid plaques and neurofibrillary tau tangles accumulate in the hippocampus and limbic system and manifest as memory decline.74”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [74]
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Preserving Lysosomal Function in the Aging Brain: Insights from Neurodegeneration
Peng, W., Minakaki, G., Nguyen, M., & Krainc, D. (2019) · Neurotherapeutics · doi:10.1007/s13311-019-00742-3 · Cited by 79 · see citing works
Lane-Donovan, C., Paredes, M., & Kao, A. W. (2025) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2025.102854 · Cited by 3 · see citing works
- Authors
- Hopfner, F., Schulte, E. C., Mollenhauer, B., Bereznai, B., Knauf, F., Lichtner, P., Zimprich, A., Haubenberger, D., Pirker, W., Brücke, T., Peters, A., Gieger, C., Kuhlenbäumer, G., Trenkwalder, C., & Winkelmann, J.
- Affiliations
- TUM Klinikum (DE)
- Paracelsus Elena Klinik Kassel (DE)
- Clinical and Research Center of Molecular Neurology Semmelweis University Budapest Hungary
- Helmholtz Munich (DE)
- Medical University of Vienna (AT)
- Wilhelminen Hospital (AT)
- Christian-Albrechts-Universität zu Kiel (DE)
- Corresponding author
- Hopfner, Franziska
- ORCID
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2013-02-13
- Volume
- 28
- Issue
- 4
- Pages
- 538-540
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W1535104085
- Cited by
- 46
- References
- 1
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 5 · 2022: 4 · 2021: 7 · 2020: 3 · 2019: 4 · 2018: 2 · 2017: 1 · 2016: 5 · 2015: 7 · 2014: 3 · 2013: 1
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- Locations
- Movement Disorders (publishedVersion)
- PubMed (publishedVersion)
- mediaTUM (Technical University of Munich) (submittedVersion)
- GRO (submittedVersion, cc-by)
- Semmelweis University Repository (Semmelweis University) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- SCARB2, Parkinson's disease, genetic susceptibility, exonic variants, glucocerebrosidase, lysosomal trafficking, genetic association
- MeSH terms
- Aged, Aged, 80 and over, Female, Genotype, Glucosylceramidase, Humans, Male, Middle Aged, Mutation, Parkinson Disease, Risk Factors, Genetic Variation, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Receptors, Scavenger, Lysosomal Membrane Proteins
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