Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling severa...
Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases
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Publisher
London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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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 phen...
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Full title
Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4947902
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4947902
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep29946
