Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.

Acid-beta glucosidase Cerebellum Gaucher disease (GD) Gba(-/-);Gba(tg) mice Neuropathology Parkinson's disease Purkinje neurons Sphingolipids

Journal

Progress in neurobiology
ISSN: 1873-5118
Titre abrégé: Prog Neurobiol
Pays: England
ID NLM: 0370121

Informations de publication

Date de publication:
02 2021
Historique:
received: 21 05 2020
revised: 03 10 2020
accepted: 25 10 2020
pubmed: 6 11 2020
medline: 24 12 2021
entrez: 5 11 2020
Statut: ppublish

Résumé

Gaucher disease (GD) is currently the focus of considerable attention due primarily to the association between the gene that causes GD (GBA) and Parkinson's disease. Mouse models exist for the systemic (type 1) and for the acute neuronopathic forms (type 2) of GD. Here we report the generation of a mouse that phenotypically models chronic neuronopathic type 3 GD. Gba

Identifiants

pubmed: 33152398
pii: S0301-0082(20)30194-5
doi: 10.1016/j.pneurobio.2020.101939
pii:
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

101939

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Auteurs

Yael Pewzner-Jung (Y)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel. Electronic address: yael.pewzner-jung@weizmann.ac.il.

Tammar Joseph (T)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

Shani Blumenreich (S)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

Ayelet Vardi (A)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

Natalia Santos Ferreira (NS)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

Soo Min Cho (SM)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

Raya Eilam (R)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Michael Tsoory (M)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Inbal E Biton (IE)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Vlad Brumfeld (V)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Rebecca Haffner-Krausz (R)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Ori Brenner (O)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Nir Sharabi (N)

Veterinary Resources, Weizmann Institute of Science, Rehovot, Israel.

Yoseph Addadi (Y)

Life Science Core Facilities, Weizmann Institute of Science, Rehovot, Israel.

Tomer-Meir Salame (TM)

Life Science Core Facilities, Weizmann Institute of Science, Rehovot, Israel.

Ron Rotkopf (R)

Life Science Core Facilities, Weizmann Institute of Science, Rehovot, Israel.

Noa Wigoda (N)

Life Science Core Facilities, Weizmann Institute of Science, Rehovot, Israel.

Nadav Yayon (N)

Department of Biological Chemistry, The Life Sciences Institute, The Hebrew University of Jerusalem, Jerusalem, Israel.

Alfred H Merrill (AH)

School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.

Raphael Schiffmann (R)

Baylor Scott & White Research Institute, Dallas, TX, USA.

Anthony H Futerman (AH)

Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.

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Classifications MeSH