ReviewTrends in molecular medicine2011
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Review in Trends in molecular medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
85 citing papers in PubMed, 2 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- Research hotspots of irisin in the nervous system: a bibliometric study and visualization analysis via CiteSpace.Frontiers in aging neuroscience · 2025Pooled it
- A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.JAMA neurology · 2013Pooled it
- Review
- Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson's disease patients.NPJ Parkinson's disease · 2024Article
- Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.International journal of molecular sciences · 2023Review
- DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson's Individuals withInternational journal of molecular sciences · 2023Article
- Review
- Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.Brain research · 2022Review
- Fat and Protein Combat Triggers Immunological Weapons of Innate and Adaptive Immune Systems to Launch Neuroinflammation in Parkinson's Disease.International journal of molecular sciences · 2022Review
- Genetic variations inFrontiers in neurology · 2022Review
- Glucocerebrosidase Mutations Cause Mitochondrial and Lysosomal Dysfunction in Parkinson's Disease: Pathogenesis and Therapeutic Implications.Frontiers in aging neuroscience · 2022Review
- Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.Glycobiology · 2021Review
- Lewy Body-like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α-Synuclein Mutations.Annals of neurology · 2021Article
- Advancing Personalized Medicine in Common Forms of Parkinson's Disease through Genetics: Current Therapeutics and the Future of Individualized Management.Journal of personalized medicine · 2021Review
- Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease.Frontiers in neurology · 2021Review
- Effects of Two Kinds of Iron Nanoparticles as Reactive Oxygen Species Inducer and Scavenger on the Transcriptomic Profiles of Two Human Leukemia Cells with Different Stemness.Nanomaterials (Basel, Switzerland) · 2020Article
- CRISPR/Cas9 Editing for Gaucher Disease Modelling.International journal of molecular sciences · 2020Article
- Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.Cell death and differentiation · 2020Article
- Fabry Disease With Concomitant Lewy Body Disease.Journal of neuropathology and experimental neurology · 2020Article
- Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.Frontiers in aging neuroscience · 2020Review
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Clinical, genetic and pathological studies demonstrate that mutations in glucocerebrosidase (GBA), which encodes the lysosomal enzyme deficient in Gaucher disease (GD), are risk factors for Parkinson disease (PD) and related disorders. Some patients with GD and Gaucher carriers develop parkinsonism. Furthermore, subjects with PD have an increased frequency of GBA mutations. GBA-mutation carriers exhibit diverse parkinsonian phenotypes and have glucocerebrosidase-positive Lewy bodies. Although the mechanism for this association is unknown, we present several theories, including protein aggregation, prion transmission, lipid accumulation and impaired autophagy, mitophagy or trafficking. Each model has inherent limitations, and a second-hit mutation might be essential. Elucidation of the basis for this link will have important consequences for studying these diseases and should provide insights into lysosomal pathways and potential treatment strategies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.