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Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases

Phosphoribosyl pyrophosphate synthetase-1 (PRPS1) is a key enzyme in nucleotide biosynthesis, and mutations in PRPS1 are found in several human diseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth disease-5, and Arts Syndrome. We utilized zebrafish as a model to confirm that m...

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Detalles Bibliográficos
Autores principales:	Pei, Wuhong, Xu, Lisha, Varshney, Gaurav K., Carrington, Blake, Bishop, Kevin, Jones, MaryPat, Huang, Sunny C., Idol, Jennifer, Pretorius, Pamela R., Beirl, Alisha, Schimmenti, Lisa A., Kindt, Katie S., Sood, Raman, Burgess, Shawn M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947902/ https://www.ncbi.nlm.nih.gov/pubmed/27425195 http://dx.doi.org/10.1038/srep29946

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