HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic In...
HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
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United States: Public Library of Science
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English
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United States: Public Library of Science
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Lesch-Nyhan Disease (LND) is the result of mutations in the X-linked gene encoding the purine metabolic enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT). LND gives rise to severe neurological anomalies including mental retardation, dystonia, chorea, pyramidal signs and a compulsive and aggressive behavior to self injure. The neurologi...
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Full title
HPRT-Deficiency Dysregulates cAMP-PKA Signaling and Phosphodiesterase 10A Expression: Mechanistic Insight and Potential Target for Lesch-Nyhan Disease?
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TN_cdi_plos_journals_1351346185
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1351346185
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0063333
