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Journal ArticleDOI

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis.

TLDR
In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis.
Abstract: 
Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis

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Citations
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

TL;DR: Understanding steroidogenesis is of fundamental importance to understanding disorders of sexual differentiation, reproduction, fertility, hypertension, obesity, and physiological homeostasis.
Journal ArticleDOI

Mechanisms Controlling the Function and Life Span of the Corpus Luteum

TL;DR: The primary function of the corpus luteum is secretion of the hormone progesterone, which is required for maintenance of normal pregnancy in mammals, although growth hormone, prolactin, and estradiol also play a role in several species.
Journal ArticleDOI

Oxysterols: modulators of cholesterol metabolism and other processes.

TL;DR: This review comprises a detailed and critical assessment of current knowledge regarding the formation, occurrence, metabolism, regulatory properties, and other activities of oxysterols in mammalian systems.
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StAR Protein and the Regulation of Steroid Hormone Biosynthesis

TL;DR: The tertiary structure of the START domain of a StAR homolog has been solved, and identification of a cholesterol-binding hydrophobic tunnel within this domain raises the possibility that StAR acts as aolesterol-shuttling protein.
Journal ArticleDOI

Congenital adrenal hyperplasia

TL;DR: Challenges in the treatment of congenital adrenal hyperplasia include avoidance of glucocorticoid overtreatment and control of sex hormone imbalances.
References
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Journal ArticleDOI

The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR).

TL;DR: It is demonstrated for the first time that expression of the protein in MA-10 cells in the absence of hormone stimulation is sufficient to induce steroid production and it is proposed that this protein is required in the acute regulation of steroidogenesis.
Journal ArticleDOI

Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I.

TL;DR: The model that a steroidogenic cell-selective protein interacts with related promoter elements from three steroidogenic enzymes to regulate their coordinate expression is supported and a cDNA is isolate and characterize that very likely encodes this protein.
Journal ArticleDOI

Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13

TL;DR: Steroidogenic acute regulatory protein (StAR) appears to mediate the rapid increase in pregnenolone synthesis stimulated by tropic hormones and StAR mRNA levels are regulated by cAMP.
Journal ArticleDOI

Neurosteroids: Biosynthesis and Function

TL;DR: The term neurosteroids applies to those steroids that are both synthesized in the nervous system, either de novo from cholesterol or from steroid hormone precursors, and that accumulate in the central nervous system to levels that are at least in part independent of steroidogenic gland secretion rates as discussed by the authors.
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