نتایج جستجو برای: 22 dehydrocholesterol
تعداد نتایج: 212275 فیلتر نتایج به سال:
Because Caenorhabditis elegans lacks several components of the de novo sterol biosynthetic pathway, it requires sterol as an essential nutrient. Supplemented cholesterol undergoes extensive enzymatic modification in C. elegans to form other sterols of unknown function. 7-Dehydrocholesterol reductase (DHCR) catalyzes the reduction of the Delta7 double bond of sterols and is suspected to be defec...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype co...
The Smith-Lemli-Opitz Syndrome (SLOS) is a congenital and developmental malformation syndrome associated with defective cholesterol biosynthesis. SLOS is clinically diagnosed by reduced plasma levels of cholesterol along with elevated levels of 7-dehydrocholesterol (and its positional isomer 8-dehydrocholesterol) and the ratio of their concentrations to that of cholesterol. Since SLOS is associ...
Cholesterol is an essential component of cellular membranes that is required for normal lipid organization and cell signaling. While the mechanisms associated with maintaining cholesterol homeostasis in the plasma and peripheral tissues have been well studied, the role and regulation of cholesterol biosynthesis in normal brain function and development have proven much more challenging to invest...
Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the gene encoding the cholesterol biosynthetic enzyme 7-dehydrocholesterol reductase (DHCR7). Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder. Biochemically, there is a deficit in ...
The yield of Aspergillus niger mycelium from a synthetic medium can be increased by the addition of microgram quantities of cholesterol, ergosterol, cholestanol, 7-dehydrocholesterol, stigmasterol, sitosterol, pregnenolone, and the vitamins D. The stimulation is not due to degradation to the acetate level. It is obtained only in highly aerated cultures. The rate of growth of Torula utilis was n...
SMITH–LEMLI–OPITZ syndrome (SLOS) is an autosomal recessive disorder with an incidence of between 1 in 26,500 pregnancies in Canada and 1 in 50,000 pregnan cies in the United States. The syndrome results from an inborn error of cholesterol biosynthesis involving a deficiency of 3�-hydroxysterol �–reductase, the en zyme that catalyzes the reduction of 7-dehydrocholesterol to cholesterol. As a ...
The discovery that the absorption bands at 293, 281-5 and 271 m,u. (Heilbron, Kamm & Morton, 1926, 1927) present in fractions obtained in the recrystallization of cholesterol were shown very strongly by ergosterol (Rosenheim & Webster, 1927) focused interest on the latter and culminated in the isolation ofcalciferol (vitamin D2). Some time later it was recognized that 7-dehydrocholesterol was a...
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