Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Eif2b5
epilepsy
eukaryotic translation initiation factor 2B
guanine nucleotide exchange factor
missense mutation
vanishing white matter disease
Journal
Journal of neurochemistry
ISSN: 1471-4159
Titre abrégé: J Neurochem
Pays: England
ID NLM: 2985190R
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
14
12
2018
revised:
24
05
2019
revised:
21
09
2019
accepted:
23
09
2019
pubmed:
7
10
2019
medline:
15
12
2020
entrez:
7
10
2019
Statut:
ppublish
Résumé
Vanishing white matter disease (VWM) is an autosomal recessive neurological disorder caused by mutation(s) in any subunit of eukaryotic translation initiation factor 2B (eIF2B), an activator of translation initiation factor eIF2. VWM occurs with mutation of the genes encoding eIF2B subunits (EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5). However, little is known regarding the underlying pathogenetic mechanisms or how to treat patients with VWM. Here we describe the identification and detailed analysis of a new spontaneous mutant mouse harboring a point mutation in the Eif2b5 gene (p.Ile98Met). Homozygous Eif2b5
Substances chimiques
Eukaryotic Initiation Factor-2B
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
25-40Informations de copyright
© 2019 International Society for Neurochemistry.
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