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desmosterol/ניוון ביולוגיה

הקישור נשמר בלוח
מאמריםניסויים קלינייםפטנטים
10 תוצאות

A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
BACKGROUND Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system, and its hormones, including sex hormones. METHODS A 19-year-old male patient presented with failure to thrive, psychomotor

Biosynthesis of membrane cholesterol during peripheral nerve development, degeneration and regeneration.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
Biosynthesis of peripheral nerve cholesterol was investigated by the in vivo and in vitro incorporation of [1-14C]-acetate into sciatic endoneurium of normal rats during development, degeneration and regeneration. Labeled sterols were rapidly formed (less than 10 min) within the endoneurial portion

Changes in cholesterol biosynthetic and transport pathways after excitotoxicity.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
The present study was carried out to elucidate changes in the gene expression and activity of cholesterol biosynthetic enzymes and transporters in the rat hippocampus after kainate excitotoxicity. Significantly increased cholesterol level was detected in the degenerating hippocampus, reaching double

Free sterols in senile human brain.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
Autopsy material of 18 patients, who died between 66-86 years of age and of 4 ones, who died between 20 and 38 years of age was investigated. The white matter of frontal lobe, corpus callosum and cerebellum was studied using histological and biochemical methods. According to the results of

Desmosterolosis presenting with multiple congenital anomalies.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development
N,N-dimethyl-3β-hydroxycholenamide (DMHCA) is an experimental pharmaceutical and a steroidal liver X receptor (LXR) agonist, which does not induce undesired hepatic lipogenesis. Herein, DMHCA was evaluated for its retinal effects on normal C57BL/6J and Cyp27a1-/-Cyp46a1-/- mice; the latter having

Comprehensive hippocampal metabolite responses to PM2.5 in young mice.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
Fine particulate matter (PM2.5) exposure alters brain development, clinical cognition and behavior in childhood. Previous studies of this subject have mainly been epidemiological investigations or analyses of gene and protein levels; however, gas chromatography-mass spectrometry (GC-MS)-based

CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
Huntington's disease is an autosomal dominant neurodegenerative disease caused by abnormal polyglutamine expansion in huntingtin (Exp-HTT) leading to degeneration of striatal neurons. Altered brain cholesterol homeostasis has been implicated in Huntington's disease, with increased accumulation of

E2012-induced cataract and its predictive biomarkers.

רק משתמשים רשומים יכולים לתרגם מאמרים
התחבר הרשם
E2012, a gamma secretase modulator without affecting Notch processing, aimed at Alzheimer's disease by reduction of amyloid β-42, induced cataract following repeated doses in the rat. Cataract appeared first at week 10-11 of treatment as a posterior subcapsular area with granular/punctate opaque or
Statins, a class of cholesterol-lowering drugs, are currently being investigated for treatment of age-related macular degeneration, a retinal disease. Herein, retinal and serum concentrations of four statins (atorvastatin, simvastatin, pravastatin, and rosuvastatin) were evaluated after mice were
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