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

Male Female Animals Mice Gangliosidosis, GM1 / genetics Mice, Knockout beta-Galactosidase / genetics Lysosomal Storage Diseases / genetics Exons
GM1 gangliosidosis Glb1 Lysosomal storage disorder MRI

Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
02 2023
Historique:
received: 07 12 2022
revised: 09 01 2023
accepted: 10 01 2023
pmc-release: 01 02 2024
pubmed: 30 1 2023
medline: 15 2 2023
entrez: 29 1 2023
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1016/j.ymgme.2023.107508 PMID: 36709532 PMC: PMC10617618
pubmed: 36709532
pii: S1096-7192(23)00138-5
doi: 10.1016/j.ymgme.2023.107508
pmc: PMC10617618
mid: NIHMS1871753
pii:
doi:

Substances chimiques

beta-Galactosidase EC 3.2.1.23

Types de publication

Journal Article Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

107508

Subventions

Organisme : Intramural NIH HHS
ID : ZIA HG200409
Pays : United States

Informations de copyright

Copyright © 2023 Elsevier Inc. All rights reserved.

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Auteurs

Elena-Raluca Nicoli (ER)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Mylene Huebecker (M)

Department of Pharmacology, University of Oxford, Oxford, United Kingdom.

Sangwoo T Han (ST)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Karolyn Garcia (K)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Jeeva Munasinghe (J)

Mouse Imaging Facility, National Institute of Neurological Disorder and Stroke, National Institutes of Health, Bethesda, MD, United States.

Martin Lizak (M)

Mouse Imaging Facility, National Institute of Neurological Disorder and Stroke, National Institutes of Health, Bethesda, MD, United States.

Yvonne Latour (Y)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Robin Yoon (R)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Brianna Glase (B)

Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Michal Tyrlik (M)

Glycosphingolipid 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 Peiravi (M)

Phenotyping Core (D.A.S.), National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.

Danielle Springer (D)

Phenotyping Core (D.A.S.), National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States.

Eva H Baker (EH)

Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, United States.

David Priestman (D)

Department of Pharmacology, University of Oxford, Oxford, United Kingdom.

Rohini Sidhu (R)

Department of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.

Pamela Kell (P)

Department of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.

Xuntian Jiang (X)

Department of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.

Josephine Kolstad (J)

Image Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.

Anna Luisa Kuhn (AL)

Image Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.

Mohammed Salman Shazeeb (MS)

Image Processing and Analysis Core (iPAC), Department of Radiology, UMass Chan Medical School, Worcester, MA, United States.

Maria T Acosta (MT)

Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.

Richard L Proia (RL)

Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

Frances M Platt (FM)

Department of Pharmacology, University of Oxford, Oxford, United Kingdom.

Cynthia J Tifft (CJ)

Glycosphingolipid 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.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Gangliosidoses › Gangliosidose à GM1 › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Galactosidases › beta-Galactosidase › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Glb1 knockout mouse model shares natural...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › Glb1 knockout mouse model shares natural...