A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. New insight into the structurefunction relationships of 3βhydroxysteroid dehidrogenase type II

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Context: 3βHSD2 is a bifunctional microsomal NADβ-dependent enzyme crucial for adrenal and gonad steroid biosynthesis, convertingδ5-steroids toδ4-steroids. 3βHSD2 deficiency is a rare cause of congenital adrenal hyperplasia caused by recessive loss-of-function HSD3B2 mutations. Objective: The aim wa...

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Detalles Bibliográficos
Autores principales: Baquedano, M.S., Ciaccio, M., Marino, R., Garrido, N.P., Ramirez, P., Maceiras, M., Turjanski, A., Defelipe, L.A., Rivarola, M.A., Belgorosky, A.
Formato: JOUR
Materias:
17 hydroxypregnenolone
androstenedione
glycine
nicotinamide adenine dinucleotide
prasterone
prasterone sulfate
pregnenolone
progesterone
renin
valine
3 beta-hydroxysteroid dehydrogenase type II
3beta hydroxy delta5 steroid dehydrogenase
amino acid substitution
Article
beta sheet
case report
cellular distribution
clitoromegaly
congenital adrenal hyperplasia
COS 7 cell line
DNA sequence
enzyme activity
female
gene
homozygosity
HSD3B2 gene
human
immunofluorescence test
in vitro study
infant
missense mutation
mutational analysis
progesterone synthesis
protein domain
protein expression
sequence analysis
structure activity relation
structure analysis
Western blotting
genetics
metabolism
precocious puberty
Adrenal Hyperplasia, Congenital
Female
Humans
Infant
Mutation, Missense
Progesterone Reductase
Puberty, Precocious
Structure-Activity Relationship
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_0021972X_v100_n1_pE191_Baquedano
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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