Article
Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
Scientific reports - 18 Jul 2016
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
Abstract excerpt
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 mutations in PRPS1 result in phenotypic deficiencies in zebrafish similar to those in the associated human diseases....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.