Mutations Causing Childhood Ataxia with Central Nervous System Hypomyelination Reduce Eukaryotic Initiation Factor 2B Complex Formation and Activity

Childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter leukoencephalopathy (VWM), is a fatal brain disorder caused by mutations in eukaryotic initiation factor 2B (eIF2B). eIF2B is essential for protein synthesis and regulates translation in response to cellul...

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Detalhes bibliográficos
Main Authors: Richardson, Jonathan P., Mohammad, Sarah S., Pavitt, Graham D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Microbiology 2004
Assuntos:
Gene Expression
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC355856/
https://ncbi.nlm.nih.gov/pubmed/14993275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.24.6.2352-2363.2004
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