Article
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Human mutation - 1 Sept 2011
Liu Rui, van der Lei Hannemieke D W, Wang Xuemin, Wortham Noel C, Tang Hua, van Berkel Carola G M, Mufunde Tsitsi Arikana, Huang Weida, van der Knaap Marjo S, Scheper Gert C, Proud Christopher G
Abstract excerpt
Autosomal recessive mutations in eukaryotic initiation factor 2B (eIF2B) cause leukoencephalopathy vanishing white matter with a wide clinical spectrum. eIF2B comprises five subunits (α-ε; genes EIF2B1, 2, 3, 4 and 5) and is the guanine nucleotide-exchange factor (GEF) for eIF2. It plays a key role in protein synthesis. Here, we have studied the functional effects of selected VWM mutations in EIF2B2-5 by...
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