Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation-Reference-Cited by-同舟云学术

Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation

Published:2016-11-21 Issue: Volume:10 Page:
ISSN:1662-453X
Container-title:Frontiers in Neuroscience
language:
Short-container-title:Front. Neurosci.

Author:

Khoury Khalil,Barbar Elie,Ainmelk Youssef,Ouellet Annie,Lavigne Pierre,LeHoux Jean-Guy

Publisher

Frontiers Media SA

Subject

General Neuroscience

Reference91 articles.

1. Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians;Abdulhadi-Atwan;J. Clin. Endocrinol. Metab.,2007

2. Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia;Achermann;Mol. Genet. Metab.,2001

3. The mechanism of action of steroidogenic acute regulatory protein (StAR). StAR acts on the outside of mitochondria to stimulate steroidogenesis;Arakane;J. Biol. Chem.,1998

4. Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: implications for the mechanism of StAR action;Arakane;Proc. Natl. Acad. Sci. U.S.A.,1996

5. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia;Baker;J. Clin. Endocrinol. Metab.,2006

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