ArticleScience advances2024
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In one paragraph
Article in Science advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
–field-weighted citation impact
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
18 citing papers in PubMed.
- Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.Neural regeneration research · 2026Article
- Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.Journal of human genetics · 2026Article
- Advances in the Comprehensive Tree Shrew Brain Atlas.Biomolecules · 2026Review
- Population-scale interpretation of RNA isoform diversity enabled by Isopedia.bioRxiv : the preprint server for biology · 2026Article
- Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.International journal of molecular sciences · 2025Review
- From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes.Advanced genetics (Hoboken, N.J.) · 2025Review
- Review
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.International journal of molecular sciences · 2025Article
- The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.Human molecular genetics · 2025Article
- Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency inbioRxiv : the preprint server for biology · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- PSQAN: a pipeline to prioritize novel and biologically relevant transcripts from long-read RNA sequencing.Bioinformatics advances · 2025Article
- The most common structural variant expected at theClinical parkinsonism & related disorders · 2025Article
- Efficient GBA1 editing via HDR with ssODNs by outcompeting pseudogene-mediated gene conversion upon CRISPR/Cas9 cleavage.Frontiers in genome editing · 2025Article
- African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.Nature structural & molecular biology · 2024Article
- CLN3 transcript complexity revealed by long-read RNA sequencing analysis.BMC medical genomics · 2024Article
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- Blood Transcriptomics Identifies Multiple Gene Expression Pathways Associated with the Clinical Efficacy ofInternational journal of molecular sciences · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
35 authors.
Emil K GustavssonGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-0541-7537
Siddharth SethiGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0002-4398-4295
Yujing GaoAstex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.ORCID 0000-0002-4542-7062
Jonathan W BrentonGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0002-2381-8484
Sonia García-RuizGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-4913-5312
David ZhangGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.
Raquel GarzaLaboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.ORCID 0000-0002-2524-3055
Regina H ReynoldsGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0001-6470-7919
James R EvansAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0003-2923-281X
Zhongbo ChenDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-6668-7202
Melissa Grant-PetersGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-0585-0971
Hannah MacphersonDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0002-9535-4025
Kylie MontgomeryGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0001-6090-0703
Rhys DoreGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0001-8417-8743
Anna I WernickDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-9048-9492
Charles ArberDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0002-9743-8134
Selina WrayDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Sonia GandhiAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0003-4395-2661
Julian EsselbornAstex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.ORCID 0000-0002-3499-8417
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-9358-8111
Christopher H DouseLaboratory of Epigenetics and Chromatin Dynamics, Department of Experimental Medical Science, Lund Stem Cell Center, Lund University, Lund, Sweden.ORCID 0000-0002-1604-8944
Anita AdamiLaboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.ORCID 0000-0002-9421-7942
Diahann A M AtachoLaboratory of Molecular Neurogenetics, Department of Experimental Medical Science, Wallenberg Neuroscience Center and Lund Stem Cell Center, Lund, Sweden.ORCID 0000-0002-6158-0235
Antonina KouliWellcome-MRC Cambridge Stem Cell Institute and John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6553-6154
Annelies QuaegebeurAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Roger A BarkerAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0001-8843-7730
Elisabet EnglundDepartment of Neuropathology, University of Lund, Lund, Sweden.ORCID 0000-0002-2708-2443
Frances PlattAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.
Johan JakobssonAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0003-0669-7673
Nicholas W WoodAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0002-9500-3348
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, UCL, London, UK.ORCID 0000-0002-2866-7777
Harpreet SainiAstex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.
Carla F BentoAstex Pharmaceuticals, 436 Cambridge Science Park, Cambridge, UK.ORCID 0000-0001-8377-4543
John HardyAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD 20815, USA.ORCID 0000-0002-3122-0423
Mina RytenGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0001-9520-6957
Funding
EPA EP-C-18-008Medical Research Council MC_PC_17230
Abstract
Mutations in
Indexed as
GlucosylceramidasePseudogenesBrainGaucher DiseaseHumansMolecular Sequence AnnotationParkinson DiseaseSequence Analysis, RNAGBA protein, humanGlucosylceramidase
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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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.