Article
A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
PloS one - 1 Jan 2013
de Almeida Rogerio A, Fogli Anne, Gaillard Marina, Scheper Gert C, Boesflug-Tanguy Odile, Pavitt Graham D
Abstract excerpt
Recessive inherited mutations in any of five subunits of the general protein synthesis factor eIF2B are responsible for a white mater neurodegenerative disease with a large clinical spectrum. The classical form is called Childhood Ataxia with CNS hypomyelination (CACH) or Vanishing White Matter Leukoencephalopathy (VWM). eIF2B-related disorders affect glial cells, despite the fact that eIF2B is a ubiquitous...
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