ArticleFrontiers in neurology2012
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Article in Frontiers in neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- 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
- The emerging roles of vacuolar-type ATPase-dependent Lysosomal acidification in neurodegenerative diseases.Translational neurodegeneration · 2020Review
- mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells.Disease models & mechanisms · 2019Article
- Lysosomal dysfunction in proteinopathic neurodegenerative disorders: possible therapeutic roles of cAMP and zinc.Molecular brain · 2019Review
- Gaucher-Associated Parkinsonism.Cellular and molecular neurobiology · 2015Review
- Epigenome-wide association study for Parkinson's disease.Neuromolecular medicine · 2014Article
- Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.Brain : a journal of neurology · 2014Article
- Oxidative damage to macromolecules in human Parkinson disease and the rotenone model.Free radical biology & medicine · 2013Review
- Cognitive impairment and dementia in Parkinson's disease: clinical features, diagnosis, and management.Frontiers in neurology · 2012Article
- Cognitive impairment and dementia-an update.Frontiers in neurology · 2012Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Mutations in both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide cause Gaucher disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in various cohorts of patients with parkinsonism and other Lewy body disorders. Furthermore, GBA mutation carriers exhibit diverse parkinsonian phenotypes and present a diffuse pattern of Lewy body distribution in the cerebral cortex. This review provides an overview of the genetic basis for this association in various diseases with dysfunction of the central nervous system in which affected individuals developed Parkinsonian symptoms. The emerging clinical, pathological, and genetic studies in neuronal synucleinopathies suggest a common underlying mechanism in the etiology of these neurodegenerative disorders.
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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.