Article
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.
Human molecular genetics - 1 Apr 2016
Vessoni Alexandre T, Herai Roberto H, Karpiak Jerome V, Leal Angelica M S, Trujillo Cleber A, Quinet Annabel, Agnez Lima Lucymara F, Menck Carlos F M, Muotri Alysson R
Abstract excerpt
Cockayne syndrome (CS) is a rare genetic disorder in which 80% of cases are caused by mutations in the Excision Repair Cross-Complementation group 6 gene (ERCC6). The encoded ERCC6 protein is more commonly referred to as Cockayne Syndrome B protein (CSB). Classical symptoms of CS patients include failure to thrive and a severe neuropathology characterized by microcephaly, hypomyelination, calcification and...
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