Associated Papers
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM et al.
The Journal of Endocrinology, 2024
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Phadte A et al.
Clinical Endocrinology, 2024
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Camats N et al.
Clinical Endocrinology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.
Lekarev O et al.
European Journal of Pediatrics, 2012
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
Kim JM et al.
European Journal of Endocrinology, 2011
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
Flück CE et al.
Plos One, 2011
Steroidogenic acute regulatory protein in white sturgeon (Acipenser transmontanus): cDNA cloning, sites of expression and transcript abundance in corticosteroidogenic tissue after an acute stressor.
Kusakabe M et al.
General and Comparative Endocrinology, 2009
Phenotypic features of 46, XX females with StAR protein mutations.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2007
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
Bhangoo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.
Stocco DM
Molecular and Cellular Endocrinology, 2002
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.
Bose HS et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.
Katsumata N et al.
The Journal of Clinical Endocrinology and Metabolism, 1999