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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Main Authors: Guibinga, Ghiabe-Henri, Hrustanovic, Gorjan, Bouic, Kathryn, Jinnah, Hyder A., Friedmann, Theodore
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Articles
Acceso en liña: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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