Institut Pasteur, Laboratoire de Génétique de la Prédisposition aux Maladies Infectieuses, Paris, France. cjulier@pasteur.fr
Translation initiation is a tightly regulated process, central to cell function, and proteins involved in this process and its regulation are highly conserved throughout evolution. New results show that mutations in genes encoding subunits of the ubiquitously expressed eIF2B translation initiation factor are responsible for a rare neurological disorder in humans—leukoencephalopathy with vanishing white matter (VWM). The eIF2/eIF2B complex has a key role in the response to a variety of stress conditions. Notably, mutations affecting other proteins of this complex or regulatory kinases cause distinct disorders.
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kinase 3, is mutated in patients with Wolcott-Rallison syndrome
