Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme.
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The structure of the sterol 26-hydroxylase cDNA reveals it to be a mitochondrial cytochrome P-450, and blotting experiments revealed that the mRNA for this enzyme is expressed in many tissues and that it is encoded by a low copy number gene in the rabbit genome.About:
This article is published in Journal of Biological Chemistry.The article was published on 1989-05-15 and is currently open access. It has received 1147 citations till now. The article focuses on the topics: CYP8B1 & Cholesterol 7 alpha-hydroxylase.read more
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Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency
TL;DR: The molecular basis of the deficiency in a male pseudohermaphrodite with ambiguous external genitalia resulting from partial combined deficiency of both 17 alpha-hydroxylase and 17,20-lyase activities is elucidated.
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Dominant Negative Variants of the SHP-2 Tyrosine Phosphatase Inhibit Prolactin Activation of Jak2 (Janus Kinase 2) and Induction of Stat5 (Signal Transducer and Activator of Transcription 5)-Dependent Transcription
TL;DR: It is proposed that SHP-2 relieves an inhibitory tyrosine phosphorylated event in Jak2 required for Jak2 activity, Stat5 phosphorylation, and transcriptional induction.
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Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor
Shu Huey Chaing,Bryan J. Clarke,Sampath Sridhara,Kirk Chu,Paul Friedman,William J. Vandusen,Harold R. Roberts,Morris A. Blajchman,Dougald M. Monroe,Katherine A. High +9 more
TL;DR: It is suggested that the first EGF-like domain is required for binding to tissue factor and that the F.VII zymogen lacks activity and requires activation for expression of biologic activity.
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Characterization and functional analysis of two common human cytochrome P450 1B1 variants.
Roman A. McLellan,Mikael Oscarson,Mats Hidestrand,Brith Leidvik,Eva Jonsson,Charlotta Otter,Magnus Ingelman-Sundberg +6 more
TL;DR: The combined results indicate that these two CYP1B1 variants show very similar properties with respect to catalytic activities and protein stability and do not alter CYP 1B1 function.
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Posttranslational Regulation of Acid Sphingomyelinase in Niemann-Pick Type C1 Fibroblasts and Free Cholesterol-enriched Chinese Hamster Ovary Cells
TL;DR: Niemann-Pick type C disease is characterized by the accumulation of cholesterol and other lipids within the lysosomal compartment, a process that is often accompanied by a reduction in acid sphingomyelinase activity, and cholesterol-induced inhibition is a posttranslational event.
References
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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
TL;DR: This assay is very reproducible and rapid with the dye binding process virtually complete in approximately 2 min with good color stability for 1 hr with little or no interference from cations such as sodium or potassium nor from carbohydrates such as sucrose.
Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
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DNA sequencing with chain-terminating inhibitors
TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
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Genomic sequencing
George M. Church,Walter Gilbert +1 more
TL;DR: The genomic sequencing procedures are applicable to the analysis of genetic polymorphisms, DNA methylation at deoxycytidines, and nucleic acid-protein interactions at single nucleotide resolution.
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A receptor-mediated pathway for cholesterol homeostasis.
TL;DR: The approach was to apply the techniques of cell culture to unravel the postulated regulatory defect in FH, which led to the discovery of a cell surface receptor for a plasma cholesterol transport protein called low density lipoprotein (LDL) and to the elucidation of the mechanism by which this receptor mediates feedback control of cholesterol synthesis.