MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch–Nyhan disease?

Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine–guanine phosphoribosyltransferase (HPRT) cause the intractable neurodevelopmental Lesch–Nyhan disease (LND) associated with aberrant development of brain dopamine pathways. In the current study, we have identified an increase...

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Bibliografische gegevens
Hoofdauteurs: Guibinga, Ghiabe-Henri, Hrustanovic, Gorjan, Bouic, Kathryn, Jinnah, Hyder A., Friedmann, Theodore
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2012
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Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3259014/
https://ncbi.nlm.nih.gov/pubmed/22042773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr495
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