Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony

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 fa...

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Pubblicato in:Hum Mol Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2016
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4787902/
https://ncbi.nlm.nih.gov/pubmed/26755826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw008
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