Evidence map›Paper›PMID 36709532›Full record

ArticleMolecular genetics and metabolism2023

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.

Elena-Raluca Nicoli, Mylene Huebecker, Sangwoo T Han, Karolyn Garcia, Jeeva Munasinghe, Martin Lizak, Yvonne Latour, Robin Yoon, Brianna Glase, Michal Tyrlik and 14 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 22% of its field
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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Genotype-Phenotype Relations for the Dystonia-Parkinsonism GenesInternational journal of molecular sciences · 2025
    Pooled it
  2. Review
  3. Article
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

24 authors at 8 institutions in 2 countries.

Elena-Raluca NicoliGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Mylene HuebeckerDepartment of Pharmacology, University of Oxford, Oxford, United Kingdom.
Sangwoo T HanGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Karolyn GarciaGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Jeeva MunasingheMouse Imaging Facility, National Institute of Neurological Disorder and Stroke, National Institutes of Health, Bethesda, MD, United States.
Martin LizakMouse Imaging Facility, National Institute of Neurological Disorder and Stroke, National Institutes of Health, Bethesda, MD, United States.
Yvonne LatourGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Robin YoonGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Brianna GlaseGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Michal TyrlikGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Phenotyping Core (D.A.S.), National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.
Morteza PeiraviPhenotyping Core (D.A.S.), National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.
Danielle SpringerPhenotyping Core (D.A.S.), National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.
Eva H BakerDepartment of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
David PriestmanDepartment of Pharmacology, University of Oxford, Oxford, United Kingdom.
Rohini SidhuDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.
Pamela KellDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.
Xuntian JiangDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.
Josephine KolstadImage Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.
Anna Luisa KuhnImage Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.
Mohammed Salman ShazeebImage Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.
Maria T AcostaUndiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Richard L ProiaGenetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.
Frances M PlattDepartment of Pharmacology, University of Oxford, Oxford, United Kingdom.
Cynthia J TifftGlycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States. Electronic address: cynthiat@mail.nih.gov.
National Institutes of Health · USNational Human Genome Research Institute · USUniversity of Massachusetts Chan Medical School · USUniversity of Oxford · GBWashington University in St. Louis · USNational Heart Lung and Blood Institute · USNational Institute of Diabetes and Digestive and Kidney Diseases · USNational Institutes of Health Clinical Center · US

Funding

WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Clay F. Semenkovich · 2013 to 2026
$27.1M
Sphingolipid Biology of NeurodegenerationZIADK056016 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI PROIA, RICHARD · 2009 to 2025
$21.3M
Mouse Models of Novel Sphingolipid Biology and Disease MechanismsZIADK056014 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI PROIA, RICHARD · 2009 to 2025
$10.6M
Pathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1M
Validation of analytical methods for quantification of a pentasaccharide biomarker in efficacy assessment of AVV treatment for GM1 gangliosidosisU01NS114156 · NINDS · WASHINGTON UNIVERSITY · PI JIANG, XUNTIAN · 2021 to 2025
$1.9M
Intramural NIH HHS ZIA HG200409NIDDK NIH HHS P30 DK020579NINDS NIH HHS U01 NS114156
6 · The paper itself

Abstract

GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional deficiency of β-galactosidase (GLB1). Using CRISPR/Cas9 genome editing, we generated a mouse model to evaluate characteristics of the disease in comparison to GM1 gangliosidosis patients. Our Glb1

Indexed as

Gangliosidosis, GM1Lysosomal Storage DiseasesAnimalsbeta-GalactosidaseExonsFemaleMaleMiceMice, Knockoutbeta-GalactosidaseGlb1GM1 gangliosidosisLysosomal storage disorderMRI

Identifiers

PMID36709532
PMCPMC10617618
OpenAlexW4316039343

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.