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Consequences of Impaired Purine Recycling on the Proteome in a Cellular Model of Lesch-Nyhan Disease

The importance of specific pathways of purine metabolism for normal brain function is highlighted by several inherited disorders, such as Lesch-Nyhan disease (LND). In this disorder, deficiency of the purine recycling enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt), causes severe neur...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Dammer, Eric B., Göttle, Martin, Duong, Duc M., Hanfelt, John, Seyfried, Nicholas T., Jinnah, H. A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4390545/
https://ncbi.nlm.nih.gov/pubmed/25769394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.02.007
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