Evidence map›Paper›PMID 33727605›Full record

ArticleScientific reports2021

Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.

Martin Weber, Sang-Won Min, Tom Truong, Jeffrey Hung, Stephanie Dale, Mike Reichelt, Savita Ubhayakar, Carol Cain-Hom, Miriam Baca, Zhiyu Jiang and 13 more

Abstract read
In one paragraph

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Martin Weber *Departments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA. weber.martin@gene.com.
Sang-Won Min *Departments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Tom TruongDepartments of Translational Immunology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Jeffrey HungDepartments of Research Pathology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Stephanie DaleDepartments of Drug Metabolism and Pharmacokinetics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Mike ReicheltDepartments of Research Pathology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Savita UbhayakarDepartments of Drug Metabolism and Pharmacokinetics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Carol Cain-HomDepartments of Transgenic Technology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Miriam BacaDepartments of Research Pathology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Zhiyu JiangDepartments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Qingling LiDepartments of Microchemistry, Proteomics and Lipidomics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Robert BrendzaDepartments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Han LinDepartments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Chung KungDepartments of Transgenic Technology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
William F ForrestDepartments of OMNI Bioinformatics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Cristine Quiason-HuynhDepartments of Drug Metabolism and Pharmacokinetics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Wendy SandovalDepartments of Microchemistry, Proteomics and Lipidomics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Buyun ChenDepartments of Drug Metabolism and Pharmacokinetics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Yuzhong DengDepartments of Drug Metabolism and Pharmacokinetics, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Amy EastonDepartments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Oded Foreman *Departments of Research Pathology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Abdoulaye Sene *Departments of Translational Immunology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
Baris Bingol *Departments of Neuroscience, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA. bingol.baris@gene.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the GBA1 gene encoding glucocerebrosidase (GCase) are linked to Gaucher (GD) and Parkinson's Disease (PD). Since some GD and PD patients develop ocular phenotypes, we determined whether ocular phenotypes might result from impaired GCase activity and the corresponding accumulation of glucosylceramide (GluCer) and glucosylsphingosine (GluSph) in the Gba1

Indexed as

Gaucher DiseaseGlaucoma, Open-AngleGlucosylceramidaseMutation, MissenseParkinson DiseaseAmino Acid SubstitutionAnimalsDisease Models, AnimalGene Knock-In TechniquesHumansMiceMice, TransgenicGlucosylceramidase

Identifiers

PMID33727605
PMCPMC7971029

What OpenQuestion holds

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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.