FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1505111520> ?p ?o ?g. }

• W1505111520 endingPage "1533" @default.
• W1505111520 startingPage "1516" @default.
• W1505111520 abstract "The present review describes the transgenic mouse models that have been designed to evaluate the functions of the cytochrome P450s involved in cholesterol and bile acid synthesis, as well as their link with disease. The knockout of cholesterogenic Cyp51 is embrionally lethal, with symptoms of Antley-Bixler syndrome occurring in mice, whereas the evidence for this association is conflicting in humans. Disruption of Cyp7a1 from classic bile acid synthesis in mice leads to either increased postnatal death or a milder phenotype with elevated serum cholesterol. The latter is similar to the case in humans, where CYP7A1 mutations associate with high plasma low-density lipoprotein and hepatic cholesterol content, as well as deficient bile acid excretion. Disruption of Cyp8b1 from an alternative bile acid pathway results in the absence of cholic acid and a reduced absorption of dietary lipids; however, the human CYP8B1 polymorphism fails to explain differences in bile acid composition. Unexpectedly, apparently normal Cyp27a1(-/-) mice still synthesize bile acids that originate from the compensatory pathway. In humans, CYP27A1 mutations cause cerebrotendinous xanthomatosis, suggesting that only mice can compensate for the loss of alternative bile acid synthesis. In line with this, Cyp7b1 knockouts are also apparently normal, whereas human CYP7B1 mutations lead to a congenital bile acid synthesis defect in children or spastic paraplegia in adults. Mouse knockouts of the brain-specific Cyp46a1 have reduced brain cholesterol excretion, whereas, in humans, CYP46A1 polymorphisms associate with cognitive impairment. At present, cytochrome P450 family 39 is poorly characterized. Despite important physiological differences between humans and mice, mouse models prove to be an invaluable tool for understanding the multifactorial facets of cholesterol and bile acid-related disorders." @default.
• W1505111520 created "2016-06-24" @default.
• W1505111520 creator A5010041886 @default.
• W1505111520 creator A5018486258 @default.
• W1505111520 creator A5061488642 @default.
• W1505111520 date "2011-12-22" @default.
• W1505111520 modified "2023-10-15" @default.
• W1505111520 title "Cytochrome P450s in the synthesis of cholesterol and bile acids – from mouse models to human diseases" @default.
• W1505111520 cites W120220131 @default.
• W1505111520 cites W1542345616 @default.
• W1505111520 cites W1580279589 @default.
• W1505111520 cites W1939226394 @default.
• W1505111520 cites W1965089752 @default.
• W1505111520 cites W1965347207 @default.
• W1505111520 cites W1968459053 @default.
• W1505111520 cites W1970066280 @default.
• W1505111520 cites W1970835663 @default.
• W1505111520 cites W1975272231 @default.
• W1505111520 cites W1976457322 @default.
• W1505111520 cites W1976813240 @default.
• W1505111520 cites W1976928449 @default.
• W1505111520 cites W1983773316 @default.
• W1505111520 cites W1985174523 @default.
• W1505111520 cites W1988067304 @default.
• W1505111520 cites W1989829637 @default.
• W1505111520 cites W1990501023 @default.
• W1505111520 cites W1992871875 @default.
• W1505111520 cites W1993423067 @default.
• W1505111520 cites W1993668532 @default.
• W1505111520 cites W1994941307 @default.
• W1505111520 cites W1995038382 @default.
• W1505111520 cites W1995424431 @default.
• W1505111520 cites W1996313893 @default.
• W1505111520 cites W1999784949 @default.
• W1505111520 cites W2000053492 @default.
• W1505111520 cites W2002793897 @default.
• W1505111520 cites W2004253073 @default.
• W1505111520 cites W2007172615 @default.
• W1505111520 cites W2008823657 @default.
• W1505111520 cites W2013620309 @default.
• W1505111520 cites W2013655312 @default.
• W1505111520 cites W2015373623 @default.
• W1505111520 cites W2015539246 @default.
• W1505111520 cites W2018315032 @default.
• W1505111520 cites W2019819564 @default.
• W1505111520 cites W2021444563 @default.
• W1505111520 cites W2024881061 @default.
• W1505111520 cites W2032038009 @default.
• W1505111520 cites W2034422407 @default.
• W1505111520 cites W2034897558 @default.
• W1505111520 cites W2036099520 @default.
• W1505111520 cites W2037177425 @default.
• W1505111520 cites W2038363528 @default.
• W1505111520 cites W2040013940 @default.
• W1505111520 cites W2040245335 @default.
• W1505111520 cites W2040342910 @default.
• W1505111520 cites W2044018453 @default.
• W1505111520 cites W2044860951 @default.
• W1505111520 cites W2045938951 @default.
• W1505111520 cites W2046309190 @default.
• W1505111520 cites W2046382875 @default.
• W1505111520 cites W2046593040 @default.
• W1505111520 cites W2047260838 @default.
• W1505111520 cites W2047821701 @default.
• W1505111520 cites W2053131885 @default.
• W1505111520 cites W2053916731 @default.
• W1505111520 cites W2053946842 @default.
• W1505111520 cites W2059052392 @default.
• W1505111520 cites W2061160824 @default.
• W1505111520 cites W2061535110 @default.
• W1505111520 cites W2065578656 @default.
• W1505111520 cites W2067123261 @default.
• W1505111520 cites W206726212 @default.
• W1505111520 cites W2068397816 @default.
• W1505111520 cites W2071124826 @default.
• W1505111520 cites W2072364328 @default.
• W1505111520 cites W2072385680 @default.
• W1505111520 cites W2077885768 @default.
• W1505111520 cites W2078567147 @default.
• W1505111520 cites W2078957786 @default.
• W1505111520 cites W2080420310 @default.
• W1505111520 cites W2081722421 @default.
• W1505111520 cites W2086317930 @default.
• W1505111520 cites W2086793697 @default.
• W1505111520 cites W2087911028 @default.
• W1505111520 cites W2088436733 @default.
• W1505111520 cites W2089450781 @default.
• W1505111520 cites W2092054388 @default.
• W1505111520 cites W2092962866 @default.
• W1505111520 cites W2094974736 @default.
• W1505111520 cites W2101096780 @default.
• W1505111520 cites W2103961046 @default.
• W1505111520 cites W2104259201 @default.
• W1505111520 cites W2104510114 @default.
• W1505111520 cites W2104572662 @default.
• W1505111520 cites W2105755033 @default.
• W1505111520 cites W2106010903 @default.
• W1505111520 cites W2106515170 @default.

• next