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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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Publicado no: | Mol Genet Metab |
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Main Authors: | , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2015
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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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