A5000286986- Cholesterol and Lipid Metabolism
- Drug Transport and Resistance Mechanisms
- Nuclear physics research studies
- Peroxisome Proliferator-Activated Receptors
- Lipid metabolism and biosynthesis
- Lipoproteins and Cardiovascular Health
- Congenital Anomalies and Fetal Surgery
- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Cancer, Lipids, and Metabolism
- Nuclear Physics and Applications
- Pediatric Hepatobiliary Diseases and Treatments
- RNA and protein synthesis mechanisms
- Tracheal and airway disorders
- Atomic and Molecular Physics
- Quantum Chromodynamics and Particle Interactions
- Steroid Chemistry and Biochemistry
- Lipid metabolism and disorders
- Urological Disorders and Treatments
- Receptor Mechanisms and Signaling
- RNA Research and Splicing
- Hormonal Regulation and Hypertension
- Astronomical and nuclear sciences
- PI3K/AKT/mTOR signaling in cancer
- Rare-earth and actinide compounds
University of Cincinnati
2015-2025
King's College Hospital
2010-2025
University of California, Los Angeles
2024-2025
Howard Hughes Medical Institute
2024-2025
Pramukhswami Medical College
2025
Gujarat Cancer & Research Institute
2017-2024
University of California, Berkeley
1986-2024
Sankalchand Patel University
2022-2023
University of Cincinnati Medical Center
2020-2023
Medical College of Wisconsin
2009-2021
Background— Sitosterolemia is a recessively inherited disorder that results from mutations in either ABCG5 or G8 proteins, with hyperabsorption of dietary sterols and decreased hepatic excretion plant cholesterol. As consequence markedly elevated plasma tissue sitosterol campesterol levels, premature atherosclerosis develops. Methods Results— In this multicenter, double-blind, randomized, placebo-controlled study, we examined whether treatment ezetimibe, an inhibitor cholesterol absorption,...
Abstract Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital (BSCL2) genes were reported pedigrees linked to chromosomes 9q34 11q13, respectively. There are limited data regarding phenotypic differences between the various subtypes CGL. Furthermore, whether there additional loci for...
The molecular mechanisms regulating the amount of dietary cholesterol retained in body as well body's ability to selectively exclude other sterols are poorly understood. Studies rare autosomal recessively inherited disease sitosterolemia (OMIM 210250) may shed some light on these processes. Patients suffering from this appear hyperabsorb both and plant intestine. Additionally, there is failure liver's preferentially rapidly excrete non-cholesterol into bile. Consequently, people who suffer...
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM #269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, develop diabetes mellitus during teenage years. The genetic defect for CGL unknown. A semi-automated genome-wide scan with set highly polymorphic short tandem repeats (STR) was carried out in 17...
Abstract The human hepatic microsomal vitamin D 25-hydroxylase protein and gene have not been identified with certainty. Sixteen recombinant enzymes were screened for activity; 11 had some activity, but CYP3A4 the highest activity. In characterized liver microsomes, activity correlated significantly testosterone 6β-hydroxylase Activity in pooled microsomes was inhibited by known inhibitors of an antibody to CYP3A2. Thus, is a 25-hydroxylase. Introduction: Studies performed identify D-25...
Smith-Lemli-Opitz/RSH syndrome (SLOS), a relatively common birth-defect mental-retardation syndrome, is caused by mutations in DHCR7, whose product catalyzes an obligate step cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. A null mutation murine Dhcr7 causes identical biochemical defect that seen SLOS, including markedly reduced tissue and total sterol levels, 30- 40-fold elevated concentrations 7-dehydrocholesterol. Prenatal lethality was not noted, but...
Smith-Lemli-Opitz/RSH syndrome (SLOS), a relatively common birth-defect mental-retardation syndrome, is caused by mutations in DHCR7, whose product catalyzes an obligate step cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. A null mutation murine Dhcr7 causes identical biochemical defect that seen SLOS, including markedly reduced tissue and total sterol levels, 30- 40-fold elevated concentrations 7-dehydrocholesterol. Prenatal lethality was not noted, but...
Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 sterolin-2), result sitosterolemia, a rare autosomal recessive disorder sterol trafficking characterized by increased plasma plant levels. Based upon genetics ABCG5/sterolin-1 ABCG8/sterolin-2 are hypothesized to function as obligate heterodimers. No phenotypic difference has yet been described humans with complete defects or ABCG8. These proteins, based...
Low density lipoprotein (LDL) internalization by mutant type C Niemann-Pick (NPC) fibroblasts results in uptake of excess total cholesterol. Uptake cholesterol appears to be mediated the specific LDL receptor pathway. Associated with excessive LDL-cholesterol is a lesion early intracellular cholesteryl ester synthesis. In vitro acylCoA:cholesterol acyltransferase activity normal cell-free extracts cells. The ability exogenous sterols enhance esterification [3H]mevalonate-derived...
ERBB2/neu and Notch signaling are known to be deregulated in many human cancers. However, pathway cross-talk dependencies not well understood. In this study, we use an ERBB2-transgenic mouse model of breast cancer (neuT) show that plays a critical role tumor maintenance. Inhibition the with gamma-secretase inhibitor (GSI) decreased both mammalian target rapamycin/AKT pathways. Antitumor activity resulting from GSI treatment was associated cell proliferation as measured by Ki67 expression...