Congenital adrenal hyperplasia

D El-Maouche, W Arlt, DP Merke - The Lancet, 2017 - thelancet.com
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
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 …

NADPH P450 oxidoreductase: structure, function, and pathology of diseases

AV Pandey, CE Flück - Pharmacology & therapeutics, 2013 - Elsevier
Cytochrome P450 oxidoreductase (POR) is an enzyme that is essential for multiple
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 …

[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 …

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 …

Conditional steroidogenic cell-targeted deletion of TSPO unveils a crucial role in viability and hormone-dependent steroid formation

J Fan, E Campioli, A Midzak, M Culty… - Proceedings of the …, 2015 - National Acad Sciences
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 …

The adrenal cortex and its disorders

WL Miller, CE Flück, DT Breault, BJ Feldman - Sperling Pediatric …, 2021 - Elsevier
The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
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 …

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 …