Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …
[HTML][HTML] Mitochondrial cholesterol: Metabolism and impact on redox biology and disease
L Goicoechea, LC de la Rosa, S Torres, C García-Ruiz… - Redox Biology, 2023 - Elsevier
Cholesterol is a crucial component of membrane bilayers by regulating their structural and
functional properties. Cholesterol traffics to different cellular compartments including …
functional properties. Cholesterol traffics to different cellular compartments including …
NADPH P450 oxidoreductase: structure, function, and pathology of diseases
Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …
metabolic processes, chiefly among them are reactions catalyzed by cytochrome P450 …
Disorders in the initial steps of steroid hormone synthesis
WL Miller - The Journal of steroid biochemistry and molecular …, 2017 - Elsevier
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and
subsequent intracellular processing of cholesterol. Disorders in these steps include …
subsequent intracellular processing of cholesterol. Disorders in these steps include …
[PDF][PDF] PDB_REDO: constructive validation, more than just looking for errors
RP Joosten, K Joosten, GN Murshudov… - … Section D: Biological …, 2012 - journals.iucr.org
Developments of the PDB_REDO procedure that combine re-refinement and rebuilding
within a unique decision-making framework to improve structures in the PDB are presented …
within a unique decision-making framework to improve structures in the PDB are presented …
Mechanisms in endocrinology: rare defects in adrenal steroidogenesis
WL Miller - European journal of endocrinology, 2018 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal
steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading …
steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading …
Conditional steroidogenic cell-targeted deletion of TSPO unveils a crucial role in viability and hormone-dependent steroid formation
Translocator protein (TSPO) is a key member of the mitochondrial cholesterol transport
complex in steroidogenic tissues. To assess the function of TSPO, we generated two lines of …
complex in steroidogenic tissues. To assess the function of TSPO, we generated two lines of …
The adrenal cortex and its disorders
The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …
The mammalian START domain protein family in lipid transport in health and disease
BJ Clark - Journal of Endocrinology, 2012 - joe.bioscientifica.com
The gonadotropin FSH plays a key role in the control of Sertoli cell function. The FSH
molecular mechanism of action is best recognized for its stimulation of the adenylyl …
molecular mechanism of action is best recognized for its stimulation of the adenylyl …
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years' experience in the UK
F Buonocore, A Maharaj, Y Qamar… - Journal of the …, 2021 - academic.oup.com
Context Although primary adrenal insufficiency (PAI) in children and young people is often
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …