Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
11 12 2020
Historique:
received: 13 11 2020
revised: 04 12 2020
accepted: 07 12 2020
entrez: 16 12 2020
pubmed: 17 12 2020
medline: 23 7 2021
Statut: epublish

Résumé

Alexander disease (AxD) is a rare astrogliopathy caused by heterozygous mutations, either inherited or arising de novo, on the glial fibrillary acid protein (GFAP) gene (17q21). Mutations in the GFAP gene make the protein prone to forming aggregates which, together with heat-shock protein 27 (HSP27), αB-crystallin, ubiquitin, and proteasome, contribute to form Rosenthal fibers causing a toxic effect on the cell. Unfortunately, no pharmacological treatment is available yet, except for symptom reduction therapies, and patients undergo a progressive worsening of the disease. The aim of this study was the production of a zebrafish model for AxD, to have a system suitable for drug screening more complex than cell cultures. To this aim, embryos expressing the human

Identifiants

pubmed: 33322348
pii: genes11121490
doi: 10.3390/genes11121490
pmc: PMC7764705
pii:
doi:

Substances chimiques

GFAP protein, human 0
Glial Fibrillary Acidic Protein 0
Ceftriaxone 75J73V1629

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Simona Candiani (S)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Silvia Carestiato (S)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Andreas F Mack (AF)

Institut für Klinische Anatomie und Zellanalytik, Universitaet Tuebingen, 72076 Tuebingen, Germany.

Daniele Bani (D)

Department of Clinical and Experimental Medicine, University of Florence, 50121 Florence, Italy.

Matteo Bozzo (M)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Valentina Obino (V)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Michela Ori (M)

Department of Biology, University of Pisa, 56126 Pisa, Italy.
Inter-University Center for the Promotion of the 3Rs Principles in Teaching & Research (Centro 3R), 56122 Pisa, Italy.

Francesca Rosamilia (F)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Miriam De Sarlo (M)

Department of Biology, University of Pisa, 56126 Pisa, Italy.

Mario Pestarino (M)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

Isabella Ceccherini (I)

Laboratory of Genetics and Genomics of Rare Diseases, Unità Operativa Semplice Dipartimentale, Istituto Giannina Gaslini, 16147 Genoa, Italy.

Tiziana Bachetti (T)

Department of Earth, Environment and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy.

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Classifications MeSH