Results
author = "Miller, Walter L"
The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule
Description :
The steroidogenic acute regulatory protein (StAR) increases the movement of cholesterol from the outer to the inner membrane of adrenal and gonadal mitochondria, thus providing the substrate for steroid hormone biosynthesis. Deletion of 62 amino-terminal aa produces a cytoplasmic form of StAR (N-62 ...
Repository :
Europe PubMed Central
Language(s) :
English
Steroidogenic Activity of StAR Requires Contact with Mitochondrial VDAC1 and Phosphate Carrier Protein*
Description :
The steroidogenic acute regulatory protein (StAR) is required for adrenal and gonadal steroidogenesis and for male sexual differentiation. StAR acts on the outer mitochondrial membrane (OMM) to facilitate movement of cholesterol from the OMM to the inner mitochondrial membrane to be converted to pre...
Repository :
Europe PubMed Central
Language(s) :
English
Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia
Description :
We describe the 8th and 9th patients with P450scc deficiency, and only the 2nd and 3rd with partial loss-of-function of P450scc.
Repository :
Europe PubMed Central
Language(s) :
English
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)
Author(s) :
Sahakitrungruang, Taninee
,
Soccio, Raymond E.
,
Lang-Muritano, Mariarosaria
,
Walker, Joanna M.
,
Achermann, John C.
Description :
Context: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. Affected individuals can present with a phenotype of late onset adrenal insufficiency with o...
Repository :
Europe PubMed Central
Language(s) :
English
Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: Implications for the mechanism of StAR action
Author(s) :
Arakane, Futoshi
,
Sugawara, Teruo
,
Nishino, Hideaki
,
Liu, Zhiming
,
Holt, John A.
,
Pain, Debkumar
,
Stocco, Douglas M.
Description :
Steroidogenic acute regulatory protein (StAR) plays a critical role
in steroid hormone biosynthesis, presumably by facilitating the
delivery of cholesterol to P450scc in the inner mitochondrial
membranes. StAR is synthesized as a 37-kDa preprotein that is processed
to a 30-kDa mature form by cle...
Repository :
Europe PubMed Central
Language(s) :
English
Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc
Author(s) :
Kim, Chan Jong
,
Lin, Lin
,
Huang, Ningwu
,
Quigley, Charmian A.
,
AvRuskin, Theodore W.
,
Achermann, John C.
,
Miller, Walter L.
Description :
Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in the gene encoding P450scc (CYP11A1), have been d...
Repository :
Europe PubMed Central
Language(s) :
English
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
Author(s) :
Gomes, Larissa G.
,
Huang, Ningwu
,
Agrawal, Vishal
,
Mendonça, Berenice B.
,
Bachega, Tania A. S. S.
,
Miller, Walter L.
Description :
Context: 21-hydroxylase deficiency (21OHD) is a common genetic disorder caused by mutations in the CYP21A2 gene, which encodes the adrenal 21-hydroxylase, microsomal P450c21. CYP21A2 gene mutations generally correlate well with impaired P450c21 enzymatic activity and the clinical findings in 21OHD, ...
Repository :
Europe PubMed Central
Language(s) :
English
Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency
Author(s) :
Hershkovitz, Eli
,
Parvari, Ruthi
,
Wudy, Stefan A.
,
Hartmann, Michaela F.
,
Gomes, Larissa G.
,
Loewental, Neta
,
Miller, Walter L.
Description :
Context: Very few patients have been described with isolated 17,20-lyase deficiency who have had their mutations in P450c17 (17α-hydroxylase/17,20-lyase) proven by DNA sequencing and in vitro characterization of the mutations. Most patients with 17,20-lyase deficiency have mutations in the domain of...
Repository :
Europe PubMed Central
Language(s) :
English
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
Author(s) :
Gomes, Larissa G.
,
Huang, Ningwu
,
Agrawal, Vishal
,
Mendonça, Berenice B.
,
Bachega, Tania A. S. S.
,
Miller, Walter L.
Description :
Context: 21-Hydroxylase deficiency (21OHD) is caused by CYP21A2 gene mutations disrupting the adrenal 21-hydroxylase, P450c21. CYP21A2 mutations generally correlate well with the 21OHD phenotype, but some children with severe CYP21A2 mutations have residual 21-hydroxylase activity. Some hepatic P450...
Repository :
Europe PubMed Central
Language(s) :
English
Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
Author(s) :
Sahakitrungruang, Taninee
,
Huang, Ningwu
,
Tee, Meng Kian
,
Agrawal, Vishal
,
Russell, William E.
,
Crock, Patricia
Description :
Context: P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.
Repository :
Europe PubMed Central
Language(s) :
English