Search results for "HPRT"
showing 4 items of 4 documents
Changes in the contractility of colon from hypoxanthine-guanine phosphoribosyltransferase (HPRT) knockout mice (Lesch-Nyhan disease)
2009
The Friedreich's Ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals
2010
DNA-repair mechanisms enable cells to maintain their genetic information by protecting it from mutations that may cause malignant growth. Recent evidence suggests that specific DNA-repair enzymes contain ISCs (iron–sulfur clusters). The nuclearencoded protein frataxin is essential for the mitochondrial biosynthesis of ISCs. Frataxin deficiency causes a neurodegenerative disorder named Friedreich's ataxia in humans. Various types of cancer occurring at young age are associated with this disease, and hence with frataxin deficiency. Mice carrying a hepatocyte-specific disruption of the frataxin gene develop multiple liver tumours for unresolved reasons. In the present study, we show that frata…
Defective dopaminergic control of contractility in colon from hypoxanthine‐guanine phosphoribosyltransferase deficient (HPRT‐) knockout mice
2009
DEFECTS IN DOPAMINERGIC PATHWAY AFFECT CONTRACTILITY OF COLON FROM HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE (HPRT) KNOCKOUT MICE.
2010
Lesch-Nyhan disease is an X-linked neurobehavioral and metabolic disorder caused by lack of hypoxanthine phosphoribosyltransferase (HPRT), a housekeeping enzyme responsible for recycling purines. The mechanisms underlying the neuropathology are not well understood, but the main neurochemical defect, in central nervous system, is linked to a dysfunction of dopaminergic pathway. In the enteric nervous system the dopaminergic nerves are a subset neurons of regulating gut motility, thus we investigated possible changes in colonic motility of HPRT ¯mice related to the dopaminergic control. We evaluated, in vitro, the mechanical activity of circular muscle strips from wild type and HPRT – mouse c…