Health Risks of Very Low Cholesterol [PDF]
, 2011 Cholesterol is a molecule central to all human physiological processes at systemic as well as cellular levels. Cholesterol, combined with Apolipoprotein B as low-density lipoprotein (LDL) has been the focus of scientific research because the molecule has
Nagar, Menachem
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Phytosterols in human serum as measured using a liquid chromatography tandem mass spectrometry [PDF]
Phytosterols are lipophilic compounds found in plants with structural similarity to mammalian cholesterol. They cannot be endogenously produced by mammals and therefore always originate from diet. There has been increased interest in dietary phytosterols
Ciurtin, Coziana +5 more
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Study of the regulation of Kv1.3 channels by sterols in in vitro and ex vivo systems [PDF]
, 2016 A koleszterin a sejtmembrán egyik alapvető építőeleme, valamint számos biológiailag aktív molekula előanyaga. A vér emelkedett koleszterintartalmával járó hiperkoleszterinémia az egyik leggyakoribb zsíranyagcsere-zavar.
Balajthy, András
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Voltammetric Determination of 7-Dehydrocholesterol as a Biomarker of Smith-Lemli-Opitz Syndrom [PDF]
, 2020 Cílem této práce byl vývoj voltametrické metody pro stanovení 7-dehydrocholesterolu jako biomarkeru dědičného onemocnění Smithova-Lemliho-Opitzova syndromu.
Zárybnická, Adéla
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Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice [PDF]
, 2007 Hongwei Yu +5 more
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Disordered cholesterol metabolism in autism spectrum disorders sterol and genetic analyses [PDF]
, 2023 Pearson, Joel
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UPLC-Orbitrap-HRMS application for analysis of plasma sterols [PDF]
Correct identification and quantification of different sterol biomarkers can be used as a first-line diagnostic approach for inherited metabolic disorders (IMD).
de Sain-van der Velden, Monique +7 more
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Chondrodysplasia Punctata II: a case with clinical characteristics and no mutation on the EBP gene [PDF]
, 2014 X-linked dominant Chondrodysplasia Punctata (CDPX2) also known as Conradi-Hunermann-Happle Syndrome is a rare human genetic disorder resulting from disfunction of Emopamil Binding Protein (EBP).
Larios, Osvaldo
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Omics analysis of oxysterols to better understand their pathophysiological role [PDF]
, 2019 Gamba, Paola Francesca +5 more
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Identification of novel mutations in the emopamil-binding protein (EBP) gene that cause X- linked dominant chondrodysplasia punctata (CDPX2). [PDF]
, 2008 X-linked dominant chondrodysplasia puncata (CDPX2) is a genetic disease caused by a defective enzyme in the cholesterol biosynthesis pathway known as the emopamil-binding protein (EBP).
Bejko, Eneida
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