Striatal Neurodevelopment Is Dysregulated in Purine Metabolism Deficiency and Impacts DARPP-32, BDNF/TrkB Expression and Signaling: New Insights on the Molecular and Cellular Basis of Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This syndrome is characterized by an array of severe neurological impairments that in part originate from striatal d...

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Detalles Bibliográficos
Autores principales: Guibinga, Ghiabe-Henri, Barron, Nikki, Pandori, William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013014/
https://www.ncbi.nlm.nih.gov/pubmed/24804781
http://dx.doi.org/10.1371/journal.pone.0096575

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013014/
https://www.ncbi.nlm.nih.gov/pubmed/24804781
http://dx.doi.org/10.1371/journal.pone.0096575

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