FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 335:1870-1879 December 19, 1996 Number 25 Next

	Full Text PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background Congenital lipoid adrenal hyperplasia results in severe impairment of steroid biosynthesis in the adrenal glands and gonads that is manifested both in utero and postnatally. We recently found mutations in the gene for the steroidogenic acute regulatory protein in four patients with this syndrome, but it was not clear whether all patients have such mutations or why there is substantial clinical variation in these patients.

Methods We directly sequenced the gene for steroidogenic acute regulatory protein in 15 patients with congenital lipoid adrenal hyperplasia from 10 countries. Identified mutations were confirmed and recreated in expression vectors, transfected into cultured cells, and assayed for the presence and activity of steroidogenic acute regulatory protein.

Results Fifteen different mutations in the gene for steroidogenic acute regulatory protein were found in 14 patients; the mutation Gln258Stop was found in 80 percent of affected alleles from Japanese and Korean patients, and the mutation Arg182Leu was found in 78 percent of affected alleles from Palestinian patients. We developed diagnostic tests for these and eight other mutations. Thirteen of the 15 mutations were in exons 5, 6, or 7, and all rendered the steroidogenic acute regulatory protein inactive in functional assays. Some mutants with amino acid replacements were capable of normal mitochondrial processing, indicating that the activity of steroidogenic acute regulatory protein is not associated with its translocation into mitochondria. Steroidogenic cells lacking the protein retained low levels of steroidogenesis. This explains the secretion of some steroid hormones by the ovaries after puberty before affected cells accumulate large amounts of cholesterol esters.

Conclusions The congenital lipoid adrenal hyperplasia phenotype is the result of two separate events, an initial genetic loss of steroidogenesis that is dependent on steroidogenic acute regulatory protein and a subsequent loss of steroidogenesis that is independent of the protein due to cellular damage from accumulated cholesterol esters.

Source Information

From the Department of Pediatrics, University of California at San Francisco, San Francisco (H.S.B., W.L.M.); and the Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia (T.S., J.F.S.).

Address reprint requests to Dr. Miller at the Department of Pediatrics, University of California, San Francisco, Bldg. MR-IV, Rm. 209, San Francisco, CA 94143-0978.

Full Text of this Article

This article has been cited by other articles:

• Shaikh, M G, Boyes, L, Kingston, H, Collins, R, Besley, G T N, Padmakumar, B, Ismayl, O, Hughes, I, Hall, C M, Hellerud, C, Achermann, J C, Clayton, P E (2008). Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J. Med. Genet. 45: e1-e1 [Abstract] [Full Text]  
• Nishida, H., Miyagawa, S., Vieux-Rochas, M., Morini, M., Ogino, Y., Suzuki, K., Nakagata, N., Choi, H.-S., Levi, G., Yamada, G. (2008). Positive Regulation of Steroidogenic Acute Regulatory Protein Gene Expression through the Interaction between Dlx and GATA-4 for Testicular Steroidogenesis. Endocrinology 149: 2090-2097 [Abstract] [Full Text]  
• Bose, M., Whittal, R. M., Miller, W. L., Bose, H. S. (2008). Steroidogenic Activity of StAR Requires Contact with Mitochondrial VDAC1 and Phosphate Carrier Protein. J. Biol. Chem. 283: 8837-8845 [Abstract] [Full Text]  
• Sasaki, G., Ishii, T., Jeyasuria, P., Jo, Y., Bahat, A., Orly, J., Hasegawa, T., Parker, K. L. (2008). Complex Role of the Mitochondrial Targeting Signal in the Function of Steroidogenic Acute Regulatory Protein Revealed by Bacterial Artificial Chromosome Transgenesis in Vivo. Mol. Endocrinol. 22: 951-964 [Abstract] [Full Text]  
• Kim, C. J., Lin, L., Huang, N., Quigley, C. A., AvRuskin, T. W., Achermann, J. C., Miller, W. L. (2008). Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc. J. Clin. Endocrinol. Metab. 93: 696-702 [Abstract] [Full Text]  
• Abdulhadi-Atwan, M., Jean, A., Chung, W. K., Meir, K., Ben Neriah, Z., Stratigopoulos, G., Oberfield, S. E., Fennoy, I., Hirsch, H. J., Bhangoo, A., Ten, S., Lerer, I., Zangen, D. H. (2007). Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians. J. Clin. Endocrinol. Metab. 92: 4000-4008 [Abstract] [Full Text]  
• Bose, M., Debnath, D., Chen, Y., Bose, H. S (2007). Folding, activity and import of steroidogenic acute regulatory protein into mitochondria changed by nicotine exposure. J Mol Endocrinol 39: 67-79 [Abstract] [Full Text]  
• Baker, B. Y., Epand, R. F., Epand, R. M., Miller, W. L. (2007). Cholesterol Binding Does Not Predict Activity of the Steroidogenic Acute Regulatory Protein, StAR. J. Biol. Chem. 282: 10223-10232 [Abstract] [Full Text]  
• Chen, Y.-C., Nagpal, M. L, Stocco, D. M, Lin, T. (2007). Effects of genistein, resveratrol, and quercetin on steroidogenesis and proliferation of MA-10 mouse Leydig tumor cells. J Endocrinol 192: 527-537 [Abstract] [Full Text]  
• Miller, W. L. (2007). StAR Search--What We Know about How the Steroidogenic Acute Regulatory Protein Mediates Mitochondrial Cholesterol Import. Mol. Endocrinol. 21: 589-601 [Abstract] [Full Text]  
• Murcia, M., Faraldo-Gomez, J. D., Maxfield, F. R., Roux, B. (2006). Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol. J. Lipid Res. 47: 2614-2630 [Abstract] [Full Text]  
• Baker, B. Y., Lin, L., Kim, C. J., Raza, J., Smith, C. P., Miller, W. L., Achermann, J. C. (2006). Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia. J. Clin. Endocrinol. Metab. 91: 4781-4785 [Abstract] [Full Text]  
• Sugawara, T., Sakuragi, N., Minakami, H. (2006). CREM confers cAMP responsiveness in human steroidogenic acute regulatory protein expression in NCI-H295R cells rather than SF-1/Ad4BP.. J Endocrinol 191: 327-337 [Abstract] [Full Text]  
• Ikonen, E. (2006). Mechanisms for cellular cholesterol transport: defects and human disease.. Physiol. Rev. 86: 1237-1261 [Abstract] [Full Text]  
• Manna, P. R, Chandrala, S. P, Jo, Y., Stocco, D. M (2006). cAMP-independent signaling regulates steroidogenesis in mouse Leydig cells in the absence of StAR phosphorylation.. J Mol Endocrinol 37: 81-95 [Abstract] [Full Text]  
• al Kandari, H., Katsumata, N., Alexander, S., Rasoul, M. A. (2006). Homozygous Mutation of P450 Side-Chain Cleavage Enzyme Gene (CYP11A1) in 46, XY Patient with Adrenal Insufficiency, Complete Sex Reversal, and Agenesis of Corpus Callosum. J. Clin. Endocrinol. Metab. 91: 2821-2826 [Abstract] [Full Text]  
• Daftary, G. S., Taylor, H. S. (2006). Endocrine Regulation of HOX Genes. Endocr. Rev. 27: 331-355 [Abstract] [Full Text]  
• Manna, P. R., Chandrala, S. P., King, S. R., Jo, Y., Counis, R., Huhtaniemi, I. T., Stocco, D. M. (2006). Molecular Mechanisms of Insulin-like Growth Factor-I Mediated Regulation of the Steroidogenic Acute Regulatory Protein in Mouse Leydig Cells. Mol. Endocrinol. 20: 362-378 [Abstract] [Full Text]  
• Baker, B. Y., Yaworsky, D. C., Miller, W. L. (2005). A pH-dependent Molten Globule Transition Is Required for Activity of the Steroidogenic Acute Regulatory Protein, StAR. J. Biol. Chem. 280: 41753-41760 [Abstract] [Full Text]  
• Bhangoo, A., Gu, W.-X., Pavlakis, S., Anhalt, H., Heier, L., Ten, S., Jameson, J. L. (2005). Phenotypic Features Associated with Mutations in Steroidogenic Acute Regulatory Protein. J. Clin. Endocrinol. Metab. 90: 6303-6309 [Abstract] [Full Text]  
• Fluck, C. E., Maret, A., Mallet, D., Portrat-Doyen, S., Achermann, J. C., Leheup, B., Theintz, G. E., Mullis, P. E., Morel, Y. (2005). A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal Hyperplasia. J. Clin. Endocrinol. Metab. 90: 5304-5308 [Abstract] [Full Text]  
• Miller, W. L. (2005). Minireview: Regulation of Steroidogenesis by Electron Transfer. Endocrinology 146: 2544-2550 [Abstract] [Full Text]  
• Hauet, T., Yao, Z.-X., Bose, H. S., Wall, C. T., Han, Z., Li, W., Hales, D. B., Miller, W. L., Culty, M., Papadopoulos, V. (2005). Peripheral-Type Benzodiazepine Receptor-Mediated Action of Steroidogenic Acute Regulatory Protein on Cholesterol Entry into Leydig Cell Mitochondria. Mol. Endocrinol. 19: 540-554 [Abstract] [Full Text]  
• Chen, X., Baker, B. Y., Abduljabbar, M. A., Miller, W. L. (2005). A Genetic Isolate of Congenital Lipoid Adrenal Hyperplasia with Atypical Clinical Findings. J. Clin. Endocrinol. Metab. 90: 835-840 [Abstract] [Full Text]  
• Yaworsky, D. C., Baker, B. Y., Bose, H. S., Best, K. B., Jensen, L. B., Bell, J. D., Baldwin, M. A., Miller, W. L. (2005). pH-dependent Interactions of the Carboxyl-terminal Helix of Steroidogenic Acute Regulatory Protein with Synthetic Membranes. J. Biol. Chem. 280: 2045-2054 [Abstract] [Full Text]  
• Buholzer, C. F., Arrighi, J.-F., Abraham, S., Piguet, V., Capponi, A. M., Casal, A. J. (2005). Chicken Ovalbumin Upstream Promoter-Transcription Factor Is a Negative Regulator of Steroidogenesis in Bovine Adrenal Glomerulosa Cells. Mol. Endocrinol. 19: 65-75 [Abstract] [Full Text]  
• Hiort, O., Holterhus, P.-M., Werner, R., Marschke, C., Hoppe, U., Partsch, C.-J., Riepe, F. G., Achermann, J. C., Struve, D. (2005). Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure. J. Clin. Endocrinol. Metab. 90: 538-541 [Abstract] [Full Text]  
• King, S. R., Ginsberg, S. D., Ishii, T., Smith, R. G., Parker, K. L., Lamb, D. J. (2004). The Steroidogenic Acute Regulatory Protein Is Expressed in Steroidogenic Cells of the Day-Old Brain. Endocrinology 145: 4775-4780 [Abstract] [Full Text]  
• Tuckey, R. C., Bose, H. S., Czerwionka, I., Miller, W. L. (2004). Molten Globule Structure and Steroidogenic Activity of N-218 MLN64 in Human Placental Mitochondria. Endocrinology 145: 1700-1707 [Abstract] [Full Text]  
• Zhang, F.-p., Pakarainen, T., Zhu, F., Poutanen, M., Huhtaniemi, I. (2004). Molecular Characterization of Postnatal Development of Testicular Steroidogenesis in Luteinizing Hormone Receptor Knockout Mice. Endocrinology 145: 1453-1463 [Abstract] [Full Text]  
• Gonzalez, A. A., Reyes, M. L., Carvajal, C. A., Tobar, J. A., Mosso, L. M., Baquedano, P., Solar, A., Venegas, A., Fardella, C. E. (2004). Congenital Lipoid Adrenal Hyperplasia Caused by a Novel Splicing Mutation in the Gene for the Steroidogenic Acute Regulatory Protein. J. Clin. Endocrinol. Metab. 89: 946-951 [Abstract] [Full Text]  
• Miller, W. L. (2004). Steroid 17{alpha}-Hydroxylase Deficiency--Not Rare Everywhere. J. Clin. Endocrinol. Metab. 89: 40-42 [Full Text]  
• Costa-Santos, M., Kater, C. E., Auchus, R. J. (2004). Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency. J. Clin. Endocrinol. Metab. 89: 49-60 [Abstract] [Full Text]  
• Granot, Z., Geiss-Friedlander, R., Melamed-Book, N., Eimerl, S., Timberg, R., Weiss, A. M., Hales, K. H., Hales, D. B., Stocco, D. M., Orly, J. (2003). Proteolysis of Normal and Mutated Steroidogenic Acute Regulatory Proteins in the Mitochondria: the Fate of Unwanted Proteins. Mol. Endocrinol. 17: 2461-2476 [Abstract] [Full Text]  
• Shen, W.-J., Patel, S., Natu, V., Hong, R., Wang, J., Azhar, S., Kraemer, F. B. (2003). Interaction of Hormone-sensitive Lipase with Steroidogeneic Acute Regulatory Protein: FACILITATION OF CHOLESTEROL TRANSFER IN ADRENAL. J. Biol. Chem. 278: 43870-43876 [Abstract] [Full Text]  
• Sugawara, T., Shimizu, H., Hoshi, N., Nakajima, A., Fujimoto, S. (2003). Steroidogenic Acute Regulatory Protein-binding Protein Cloned by a Yeast Two-hybrid System. J. Biol. Chem. 278: 42487-42494 [Abstract] [Full Text]  
• Soccio, R. E., Breslow, J. L. (2003). StAR-related Lipid Transfer (START) Proteins: Mediators of Intracellular Lipid Metabolism. J. Biol. Chem. 278: 22183-22186 [Full Text]  
• Casal, A. J., Silvestre, J.-S., Delcayre, C., Capponi, A. M. (2003). Expression and Modulation of Steroidogenic Acute Regulatory Protein Messenger Ribonucleic Acid in Rat Cardiocytes and after Myocardial Infarction. Endocrinology 144: 1861-1868 [Abstract] [Full Text]  
• Irusta, G., Parborell, F., Peluffo, M., Manna, P. R., Gonzalez-Calvar, S. I., Calandra, R., Stocco, D. M., Tesone, M. (2003). Steroidogenic Acute Regulatory Protein in Ovarian Follicles of Gonadotropin-Stimulated Rats Is Regulated by a Gonadotropin-Releasing Hormone Agonist. Biol. Reprod. 68: 1577-1583 [Abstract] [Full Text]  
• Schwarzenbach, H., Manna, P. R., Stocco, D. M., Chakrabarti, G., Mukhopadhyay, A. K. (2003). Stimulatory Effect of Progesterone on the Expression of Steroidogenic Acute Regulatory Protein in MA-10 Leydig Cells. Biol. Reprod. 68: 1054-1063 [Abstract] [Full Text]  
• King, S. R., Manna, P. R., Ishii, T., Syapin, P. J., Ginsberg, S. D., Wilson, K., Walsh, L. P., Parker, K. L., Stocco, D. M., Smith, R. G., Lamb, D. J. (2002). An Essential Component in Steroid Synthesis, the Steroidogenic Acute Regulatory Protein, Is Expressed in Discrete Regions of the Brain. J. Neurosci. 22: 10613-10620 [Abstract] [Full Text]  
• Koch, C. A., Pacak, K., Chrousos, G. P. (2002). The Molecular Pathogenesis of Hereditary and Sporadic Adrenocortical and Adrenomedullary Tumors. J. Clin. Endocrinol. Metab. 87: 5367-5384 [Abstract] [Full Text]  
• Tuckey, R. C., Headlam, M. J., Bose, H. S., Miller, W. L. (2002). Transfer of Cholesterol between Phospholipid Vesicles Mediated by the Steroidogenic Acute Regulatory Protein (StAR). J. Biol. Chem. 277: 47123-47128 [Abstract] [Full Text]  
• Manna, P. R., Huhtaniemi, I. T., Wang, X.-J., Eubank, D. W., Stocco, D. M. (2002). Mechanisms of Epidermal Growth Factor Signaling: Regulation of Steroid Biosynthesis and the Steroidogenic Acute Regulatory Protein in Mouse Leydig Tumor Cells. Biol. Reprod. 67: 1393-1404 [Abstract] [Full Text]  
• Ishii, T., Hasegawa, T., Pai, C.-I, Yvgi-Ohana, N., Timberg, R., Zhao, L., Majdic, G., Chung, B.-c., Orly, J., Parker, K. L. (2002). The Roles of Circulating High-Density Lipoproteins and Trophic Hormones in the Phenotype of Knockout Mice Lacking the Steroidogenic Acute Regulatory Protein. Mol. Endocrinol. 16: 2297-2309 [Abstract] [Full Text]  
• Li, H., Brochu, M., Wang, S. P., Rochdi, L., Cote, M., Mitchell, G., Gallo-Payet, N. (2002). Hormone-Sensitive Lipase Deficiency in Mice Causes Lipid Storage in the Adrenal Cortex and Impaired Corticosterone Response to Corticotropin Stimulation. Endocrinology 143: 3333-3340 [Abstract] [Full Text]  
• Eimerl, S., Orly, J. (2002). Regulation of Steroidogenic Genes by Insulin-Like Growth Factor-1 and Follicle-Stimulating Hormone: Differential Responses of Cytochrome P450 Side-Chain Cleavage, Steroidogenic Acute Regulatory Protein, and 3{beta}-Hydroxysteroid Dehydrogenase/Isomerase in Rat Granulosa Cells. Biol. Reprod. 67: 900-910 [Abstract] [Full Text]  
• Caulfield, M. P., Lynn, T., Gottschalk, M. E., Jones, K. L., Taylor, N. F., Malunowicz, E. M., Shackleton, C. H. L., Reitz, R. E., Fisher, D. A. (2002). The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens. J. Clin. Endocrinol. Metab. 87: 3682-3690 [Abstract] [Full Text]  
• Katsumata, N., Ohtake, M., Hojo, T., Ogawa, E., Hara, T., Sato, N., Tanaka, T. (2002). Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans. J. Clin. Endocrinol. Metab. 87: 3808-3813 [Abstract] [Full Text]  
• Kiiveri, S., Liu, J., Westerholm-Ormio, M., Narita, N., Wilson, D. B., Voutilainen, R., Heikinheimo, M. (2002). Differential Expression of GATA-4 and GATA-6 in Fetal and Adult Mouse and Human Adrenal Tissue. Endocrinology 143: 3136-3143 [Abstract] [Full Text]  
• Hu, M.-C., Hsu, N.-C., El Hadj, N. B., Pai, C.-I, Chu, H.-P., Wang, C.-K. L., Chung, B.-c. (2002). Steroid Deficiency Syndromes in Mice with Targeted Disruption of Cyp11a1. Mol. Endocrinol. 16: 1943-1950 [Abstract] [Full Text]  
• Achermann, J. C., Ozisik, G., Meeks, J. J., Jameson, J. L. (2002). Genetic Causes of Human Reproductive Disease. J. Clin. Endocrinol. Metab. 87: 2447-2454 [Full Text]  
• Kalantaridou, S. N., Chrousos, G. P. (2002). Monogenic Disorders of Puberty. J. Clin. Endocrinol. Metab. 87: 2481-2494 [Full Text]  
• Javitt, N. B. (2002). 25R,26-Hydroxycholesterol revisited: synthesis, metabolism, and biologic roles. J. Lipid Res. 43: 665-670 [Abstract] [Full Text]  
• Merke, D. P., Bornstein, S. R., Avila, N. A., Chrousos, G. P. (2002). Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ANN INTERN MED 136: 320-334 [Abstract] [Full Text]  
• Gruber, C. J., Tschugguel, W., Schneeberger, C., Huber, J. C. (2002). Production and Actions of Estrogens. NEJM 346: 340-352 [Full Text]  
• Artemenko, I. P., Zhao, D., Hales, D. B., Hales, K. H., Jefcoate, C. R. (2001). Mitochondrial Processing of Newly Synthesized Steroidogenic Acute Regulatory Protein (StAR), but Not Total StAR, Mediates Cholesterol Transfer to Cytochrome P450 Side Chain Cleavage Enzyme in Adrenal Cells. J. Biol. Chem. 276: 46583-46596 [Abstract] [Full Text]  
• Tajima, T., Fujieda, K., Kouda, N., Nakae, J., Miller, W. L. (2001). Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency. J. Clin. Endocrinol. Metab. 86: 3820-3825 [Abstract] [Full Text]  
• Stocco, D. M. (2001). Tracking the Role of a StAR in the Sky of the New Millennium. Mol. Endocrinol. 15: 1245-1254 [Abstract] [Full Text]  
• Cherradi, N., Capponi, A. M., Gaillard, R. C., Pralong, F. P. (2001). Decreased Expression of Steroidogenic Acute Regulatory Protein: A Novel Mechanism Participating in the Leptin-Induced Inhibition of Glucocorticoid Biosynthesis. Endocrinology 142: 3302-3308 [Abstract] [Full Text]  
• Richmond, E. J., Flickinger, C. J., McDonald, J. A., Lovell, M. A., Rogol, A. D. (2001). Lipoid Congenital Adrenal Hyperplasia (CAH): Patient Report and a Mini-Review. CLIN PEDIATR 40: 403-407  
• Calvo, R. M., Asunción, M., Tellería, D., Sancho, J., San Millán, J. L., Escobar-Morreale, H. F. (2001). Screening for Mutations in the Steroidogenic Acute Regulatory Protein and Steroidogenic Factor-1 Genes, and in CYP11A and Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Gene on the X Chromosome, Gene-1 (DAX-1), in Hyperandrogenic Hirsute Women. J. Clin. Endocrinol. Metab. 86: 1746-1749 [Abstract] [Full Text]  
• Lacroix, A., N'Diaye, N., Tremblay, J., Hamet, P. (2001). Ectopic and Abnormal Hormone Receptors in Adrenal Cushing's Syndrome. Endocr. Rev. 22: 75-110 [Abstract] [Full Text]  
• Collett-Solberg, P. F. (2001). Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 1. CLIN PEDIATR 40: 1-16 [Abstract]  
• Bose, H. S., Sato, S., Aisenberg, J., Shalev, S. A., Matsuo, N., Miller, W. L. (2000). Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia. J. Clin. Endocrinol. Metab. 85: 3636-3639 [Abstract] [Full Text]  
• Hasegawa, T., Zhao, L., Caron, K. M., Majdic, G., Suzuki, T., Shizawa, S., Sasano, H., Parker, K. L. (2000). Developmental Roles of the Steroidogenic Acute Regulatory Protein (StAR) as Revealed by StAR Knockout Mice. Mol. Endocrinol. 14: 1462-1471 [Abstract] [Full Text]  
• Sugawara, T., Saito, M., Fujimoto, S. (2000). Sp1 and SF-1 Interact and Cooperate in the Regulation of Human Steroidogenic Acute Regulatory Protein Gene Expression. Endocrinology 141: 2895-2903 [Abstract] [Full Text]  
• Katsumata, N., Kawada, Y., Yamamoto, Y., Noda, M., Nimura, A., Horikawa, R., Tanaka, T. (1999). A Novel Compound Heterozygous Mutation in the Steroidogenic Acute Regulatory Protein Gene in a Patient with Congenital Lipoid Adrenal Hyperplasia. J. Clin. Endocrinol. Metab. 84: 3983-3987 [Abstract] [Full Text]  
• Lehoux, J.-G., Hales, D. B., Fleury, A., Brière, N., Martel, D., Ducharme, L. (1999). The in Vivo Effects of Adrenocorticotropin and Sodium Restriction on the Formation of Different Species of Steroidogenic Acute Regulatory Protein in Rat Adrenal. Endocrinology 140: 5154-5164 [Abstract] [Full Text]  
• Bose, H. S., Whittal, R. M., Baldwin, M. A., Miller, W. L. (1999). The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule. Proc. Natl. Acad. Sci. USA 96: 7250-7255 [Abstract] [Full Text]  
• Silverman, E., Eimerl, S., Orly, J. (1999). CCAAT Enhancer-binding Protein beta  and GATA-4 Binding Regions within the Promoter of the Steroidogenic Acute Regulatory Protein (StAR) Gene Are Required for Transcription in Rat Ovarian Cells. J. Biol. Chem. 274: 17987-17996 [Abstract] [Full Text]  
• Korsch, E., Peter, M., Hiort, O., Sippell, W. G., Ure, B. M., Hauffa, B. P., Bergmann, M. (1999). Gonadal Histology with Testicular Carcinoma in Situ in a 15-Year-Old 46,XY Female Patient with a Premature Termination in the Steroidogenic Acute Regulatory Protein Causing Congenital Lipoid Adrenal Hyperplasia. J. Clin. Endocrinol. Metab. 84: 1628-1632 [Abstract] [Full Text]  
• Adashi, E. Y., Hennebold, J. D. (1999). Single-Gene Mutations Resulting in Reproductive Dysfunction in Women. NEJM 340: 709-718 [Full Text]  
• Wang, X., Liu, Z., Eimerl, S., Timberg, R., Weiss, A. M., Orly, J., Stocco, D. M. (1998). Effect of Truncated Forms of the Steroidogenic Acute Regulatory Protein on Intramitochondrial Cholesterol Transfer. Endocrinology 139: 3903-3912 [Abstract] [Full Text]  
• Lehoux, J.-G., Fleury, A., Ducharme, L. (1998). The Acute and Chronic Effects of Adrenocorticotropin on the Levels of Messenger Ribonucleic Acid and Protein of Steroidogenic Enzymes in Rat Adrenal in Vivo. Endocrinology 139: 3913-3922 [Abstract] [Full Text]  
• Luo, L., Chen, H., Stocco, D. M., Zirkin, B. R. (1998). Leydig Cell Protein Synthesis and Steroidogenesis in Response to Acute Stimulation by Luteinizing Hormone in Rats. Biol. Reprod. 59: 263-270 [Abstract] [Full Text]  
• Cherradi, N., Brandenburger, Y., Rossier, M. F., Vallotton, M. B., Stocco, D. M., Capponi, A. M. (1998). Atrial Natriuretic Peptide Inhibits Calcium-Induced Steroidogenic Acute Regulatory Protein Gene Transcription in Adrenal Glomerulosa Cells. Mol. Endocrinol. 12: 962-972 [Abstract] [Full Text]  
• Lin, T., Hu, J., Wang, D., Stocco, D. M. (1998). Interferon-{gamma} Inhibits the Steroidogenic Acute Regulatory Protein Messenger Ribonucleic Acid Expression and Protein Levels in Primary Cultures of Rat Leydig Cells. Endocrinology 139: 2217-2222 [Abstract] [Full Text]  
• Miller, W. L. (1998). Why Nobody Has P450scc (20,22 Desmoslase) Deficiencyg. J. Clin. Endocrinol. Metab. 83: 1399-1400 [Full Text]  
• Ariyoshi, N., Kim, Y.-C., Artemenko, I., Bhattacharyya, K. K., Jefcoate, C. R. (1998). Characterization of the Rat Star Gene That Encodes the Predominant 3.5-Kilobase Pair mRNA. ACTH STIMULATION OF ADRENAL STEROIDS IN VIVO PRECEDES ELEVATION OF Star mRNA AND PROTEIN. J. Biol. Chem. 273: 7610-7619 [Abstract] [Full Text]  
• Brand, C., Cherradi, N., Defaye, G., Chinn, A., Chambaz, E. M., Feige, J.-J., Bailly, S. (1998). Transforming Growth Factor beta 1 Decreases Cholesterol Supply to Mitochondria via Repression of Steroidogenic Acute Regulatory Protein Expression. J. Biol. Chem. 273: 6410-6416 [Abstract] [Full Text]  
• Arakane, F., King, S. R., Du, Y., Kallen, C. B., Walsh, L. P., Watari, H., Stocco, D. M., Strauss III, J. F. (1997). Phosphorylation of Steroidogenic Acute Regulatory Protein (StAR) Modulates Its Steroidogenic Activity. J. Biol. Chem. 272: 32656-32662 [Abstract] [Full Text]  
• Pollack, S. E., Furth, E. E., Kallen, C. B., Arakane, F., Kiriakidou, M., Kozarsky, K. F., Strauss, J. F. III (1997). Localization of the Steroidogenic Acute Regulatory Protein in Human Tissues. J. Clin. Endocrinol. Metab. 82: 4243-4251 [Abstract] [Full Text]  
• Fu, G. K., Lin, D., Zhang, M. Y. H., Bikle, D. D., Shackleton, C. H. L., Miller, W. L., Portale, A. A. (1997). Cloning of Human 25-Hydroxyvitamin D-1{alpha}-Hydroxylase and Mutations Causing Vitamin D-Dependent Rickets Type 1. Mol. Endocrinol. 11: 1961-1970 [Abstract] [Full Text]  
• Clark, B. J., Combs, R., Hales, K. H., Hales, D. B., Stocco, D. M. (1997). Inhibition of Transcription Affects Synthesis of Steroidogenic Acute Regulatory Protein and Steroidogenesis in MA-10 Mouse Leydig Tumor Cells. Endocrinology 138: 4893-4901 [Abstract] [Full Text]  
• Caron, K. M., Soo, S.-C., Wetsel, W. C., Stocco, D. M., Clark, B. J., Parker, K. L. (1997). Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. Proc. Natl. Acad. Sci. USA 94: 11540-11545 [Abstract] [Full Text]  
• Watari, H., Arakane, F., Moog-Lutz, C., Kallen, C. B., Tomasetto, C., Gerton, G. L., Rio, M.-C., Baker, M. E., Strauss, J. F. III (1997). MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis. Proc. Natl. Acad. Sci. USA 94: 8462-8467 [Abstract] [Full Text]  
• Okuyama, E., Nishi, N., Onishi, S., Itoh, S., Ishii, Y., Miyanaka, H., Fujita, K., Ichikawa, Y. (1997). A Novel Splicing Junction Mutation in the Gene for the Steroidogenic Acute Regulatory Protein Causes Congenital Lipoid Adrenal Hyperplasia. J. Clin. Endocrinol. Metab. 82: 2337-2342 [Abstract] [Full Text]  
• Bose, H. S., Pescovitz, O. H., Miller, W. L. (1997). Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous Frameshift Mutation in the Steroidogenic Acute Regulatory Protein. J. Clin. Endocrinol. Metab. 82: 1511-1515 [Abstract] [Full Text]  
• Cherradi, N., Rossier, M. F., Vallotton, M. B., Timberg, R., Friedberg, I., Orly, J., Wang, X. J., Stocco, D. M., Capponi, A. M. (1997). Submitochondrial Distribution of Three Key Steroidogenic Proteins (Steroidogenic Acute Regulatory Protein and Cytochrome P450scc and 3beta -Hydroxysteroid Dehydrogenase Isomerase Enzymes) upon Stimulation by Intracellular Calcium in Adrenal Glomerulosa Cells. J. Biol. Chem. 272: 7899-7907 [Abstract] [Full Text]  
• Alpy, F., Stoeckel, M.-E., Dierich, A., Escola, J.-M., Wendling, C., Chenard, M.-P., Vanier, M. T., Gruenberg, J., Tomasetto, C., Rio, M.-C. (2001). The Steroidogenic Acute Regulatory Protein Homolog MLN64, a Late Endosomal Cholesterol-binding Protein. J. Biol. Chem. 276: 4261-4269 [Abstract] [Full Text]  
• Christensen, K., Bose, H. S., Harris, F. M., Miller, W. L., Bell, J. D. (2001). Binding of Steroidogenic Acute Regulatory Protein to Synthetic Membranes Suggests an Active Molten Globule. J. Biol. Chem. 276: 17044-17051 [Abstract] [Full Text]