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Protein Sensors for Membrane Sterols

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Structural and functional features and significance of the physical linkage between ER and mitochondria

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The LDL Receptor

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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

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Regulation of the acute production of steroids in steroidogenic cells

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Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

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SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

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MicroRNA-33 and the SREBP Host Genes Cooperate to Control Cholesterol Homeostasis

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Identification of HE1 as the Second Gene of Niemann-Pick C Disease

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A Four-Step Cycle Driven by PI(4)P Hydrolysis Directs Sterol/PI(4)P Exchange by the ER-Golgi Tether OSBP

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Steroidogenic factor 1: a key determinant of endocrine development and function

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia

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Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

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Regulation of the acute production of steroids in steroidogenic cells

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Early steps in steroidogenesis: intracellular cholesterol trafficking

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Niemann-Pick disease type C

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SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element.

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Multiple signaling pathways regulating steroidogenesis and steroidogenic acute regulatory protein expression: more complicated than we thought

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Human cytochromes P450 in health and disease

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The life of lipid droplets

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Malformation syndromes caused by disorders of cholesterol synthesis

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Where the endoplasmic reticulum and the mitochondrion tie the knot: The mitochondria-associated membrane (MAM)

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N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

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Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

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Peripheral-Type Benzodiazepine/Diazepam Binding Inhibitor Receptor: Biological Role in Steroidogenic Cell Function*

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Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

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Phosphorylation of steroidogenic acute regulatory protein (StAR) modulates its steroidogenic activity

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Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1 −/− mouse

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Rapid regulation of steroidogenesis by mitochondrial protein import

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Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

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New functions of mitochondria associated membranes in cellular signaling

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Structural basis for altered activity of M‐ and H‐isozyme forms of human lactate dehydrogenase

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Peripheral-type benzodiazepine receptors mediate translocation of cholesterol from outer to inner mitochondrial membranes in adrenocortical cells

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Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter

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The Conserved GTPase Gem1 Regulates Endoplasmic Reticulum–Mitochondria Connections

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Minireview: Regulation of Steroidogenesis by Electron Transfer

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SREBP pathway responds to sterols and functions as an oxygen sensor in fission yeast.

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StAR-related lipid transfer (START) proteins: mediators of intracellular lipid metabolism

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Cholesterol-Dependent Degradation of Squalene Monooxygenase, a Control Point in Cholesterol Synthesis beyond HMG-CoA Reductase

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Human skin is a steroidogenic tissue: steroidogenic enzymes and cofactors are expressed in epidermis, normal sebocytes, and an immortalized sebocyte cell line (SEB-1)

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Intracellular cholesterol transport

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Novel activities of CYP11A1 and their potential physiological significance

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OSBP Is a Cholesterol-Regulated Scaffolding Protein in Control of ERK1/2 Activation

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miR-200 family and targets, ZEB1 and ZEB2, modulate uterine quiescence and contractility during pregnancy and labor

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Self-association of cholesterol in aqueous solution

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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

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Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

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Lipid droplet-organelle interactions; sharing the fats

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Developmental roles of the steroidogenic acute regulatory protein (StAR) as revealed by StAR knockout mice

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Role of mitochondria in steroidogenesis

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Hormonal Regulation of P450scc (20,22-desmolase) and P450cl7 (17α-hydroxylase/17,20-lyase) in Cultured Human Granulosa Cells*

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Peripheral-type benzodiazepine receptor-mediated action of steroidogenic acute regulatory protein on cholesterol entry into Leydig cell mitochondria

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Translocator Protein/Peripheral Benzodiazepine Receptor Is Not Required for Steroid Hormone Biosynthesis

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The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors

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Regulation of steroid hormone biosynthesis: identification of precursors of a phosphoprotein targeted to the mitochondrion in stimulated rat adrenal cortex cells

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MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis

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Purified NPC1 Protein

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Peripheral benzodiazepine receptor/translocator protein global knock-out mice are viable with no effects on steroid hormone biosynthesis

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Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues.

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Purified NPC1 Protein

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The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule

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Structural Basis of Sterol Binding by NPC2, a Lysosomal Protein Deficient in Niemann-Pick Type C2 Disease

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SREBPs: Transcriptional Mediators of Lipid HomeostasisPreprint

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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

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ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin.

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Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes

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Molecular cloning and nucleotide sequence of cDNA for mRNA of mitochondrial cytochrome P-450(SCC) of bovine adrenal cortex.

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Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal cholesterol transport

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Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

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Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

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Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis

Shi, Y., Ghosh, M. C., Kovtunovych, G., Crooks, D. R., & Rouault, T. A. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2011.11.002 · Cited by 194

Lipid and cholesterol trafficking in NPC

Mukherjee, S., & Maxfield, F. R. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2004.08.009 · Cited by 190

Gene structure of human cytochrome P-450(scc), cholesterol desmolase

MOROHASHI, K.-I., SOGAWA, K., OMURA, T., & FUJII-KURIYAMA, Y. (1987) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a121955 · Cited by 189

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

Nakae, J. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.571 · Cited by 188

The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6

Soccio, R. E., Adams, R. M., Romanowski, M. J., Sehayek, E., Burley, S. K., & Breslow, J. L. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.052143799 · Cited by 188

Developmental Expression of Genes for the Stereoidogenic Enzymes P450scc (20,22-Desmolase), P450cl7 (17αHydroxylase/17,20-Lyase), and P450c21 (21-Hydroxylase) in the Human Fetus*

VOUTILAINEN, R., & MILLER, W. L. (1986) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-63-5-1145 · Cited by 185

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

Pipalia, N. H., Cosner, C. C., Huang, A., Chatterjee, A., Bourbon, P., Farley, N., Helquist, P., Wiest, O., & Maxfield, F. R. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1014890108 · Cited by 180

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

Vance, J. E., & Karten, B. (2014) · Journal of Lipid Research · doi:10.1194/jlr.r047837 · Cited by 174

The mammalian START domain protein family in lipid transport in health and disease

Clark, B. J. (2011) · Journal of Endocrinology · doi:10.1530/joe-11-0313 · Cited by 174

Adrenal cholesterol utilization

Kraemer, F. B. (2007) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.12.001 · Cited by 171

The role of CYP11A1 in the production of vitamin D metabolites and their role in the regulation of epidermal functions

Slominski, A. T., Kim, T.-K., Li, W., Yi, A.-K., Postlethwaite, A., & Tuckey, R. C. (2014) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2013.10.012 · Cited by 170

MLN64 Mediates Mobilization of Lysosomal Cholesterol to Steroidogenic Mitochondria

Zhang, M., Liu, P., Dwyer, N. K., Christenson, L. K., Fujimoto, T., Martı́nez, F., Comly, M., Hanover, J. A., Blanchette‐Mackie, E. J., & Strauss, J. F. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200003200 · Cited by 169

Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann–Pick C disease

Langmade, S. J., Gale, S. E., Frolov, A., Mohri, I., Suzuki, K., Mellon, S. H., Walkley, S. U., Covey, D. F., Schaffer, J. E., & Ory, D. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0606218103 · Cited by 168

Acyl-CoA:cholesterol acyltransferases (ACATs/SOATs): Enzymes with multiple sterols as substrates and as activators

Rogers, M. A., Liu, J., Song, B., Li, B.-L., Chang, C. C. Y., & Chang, T. (2014) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2014.09.008 · Cited by 167

Niemann-Pick Type C Disease and Intracellular Cholesterol Trafficking

Chang, T., Reid, P., Sugii, S., Ohgami, N., Cruz, J. C., & Chang, C. C. Y. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.r400040200 · Cited by 164

Mitochondria-associated endoplasmic reticulum membrane (MAM) regulates steroidogenic activity via steroidogenic acute regulatory protein (StAR)-voltage-dependent anion channel 2 (VDAC2) interaction

Prasad, M., Kaur, J., Pawlak, K. J., Bose, M., Whittal, R. M., & Bose, H. S. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.605808 · Cited by 163

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

Fujieda, K., Tajima, T., Nakae, J., Sageshima, S., Tachibana, K., Suwa, S., Sugawara, T., & Strauss, J. F. (1997) · Journal of Clinical Investigation · doi:10.1172/jci119284 · Cited by 162

Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase Activity

Aslanidis, C., Ries, S. J., Fehringer, P., Büchler, C., Klima, H., & Schmitz, G. (1996) · Genomics · doi:10.1006/geno.1996.0162 · Cited by 162

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Metherell, L. A., Naville, D., Halaby, G., Begeot, M., Huebner, A., Nürnberg, G., Nürnberg, P., Green, J., Tomlinson, J. W., Krone, N. P., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0467 · Cited by 162

Crystal structure of the Mus musculus cholesterol-regulated START protein 4 (StarD4) containing a StAR-related lipid transfer domain

Romanowski, M. J., Soccio, R. E., Breslow, J. L., & Burley, S. K. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.052140699 · Cited by 162

Site-specific mutations in human ferredoxin that affect binding to ferredoxin reductase and cytochrome P450scc

Coghlan, V. M., & Vickery, L. E. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)55106-1 · Cited by 160

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*

Bose, H. S., Pescovitz, O. H., & Miller, W. L. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.5.3962 · Cited by 160

Clinical spectrum of Niemann‐Pick disease type C

Fink, J. K., Filling‐Katz, M. R., Sokol, J., Cogan, D. G., Pikus, A., Sonies, B., Soong, B., Pentchev, P. G., Comly, M. E., Brady, R. O., et al. (1989) · Neurology · doi:10.1212/wnl.39.8.1040 · Cited by 158

Expression of the steroidogenic enzyme P450scc in the central and peripheral nervous systems during rodent embryogenesis

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Structural and functional diversity of ferredoxin-NADP+ reductases

Aliverti, A., Pandini, V., Pennati, A., de Rosa, M., & Zanetti, G. (2008) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2008.02.014 · Cited by 156

Cytochrome P-450 from Bovine Adrenocortical Mitochondria: an Enzyme for the Side Chain Cleavage of Cholesterol

Shikita, M., & Hall, P. F. (1973) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)43546-1 · Cited by 154

Acute stimulation of steroidogenesis in corpus luteum and adrenal cortex by peptide hormones. Rapid induction of a similar protein in both tissues.

Pon, L. A., & Orme-Johnson, N. R. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)84604-5 · Cited by 151

Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23–q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24–q25

SPARKES, R. S., KLISAK, I., & MILLER, W. L. (1991) · DNA and Cell Biology · doi:10.1089/dna.1991.10.359 · Cited by 149

Steroidogenic Activity of StAR Requires Contact with Mitochondrial VDAC1 and Phosphate Carrier Protein

Bose, M., Whittal, R. M., Miller, W. L., & Bose, H. S. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m709221200 · Cited by 143

New aspects of electron transfer revealed by the crystal structure of a truncated bovine adrenodoxin, Adx(4-108)

Müller, A., Müller, J. J., Muller, Y. A., Uhlmann, H., Bernhardt, R., & Heinemann, U. (1998) · Structure · doi:10.1016/s0969-2126(98)00031-8 · Cited by 142

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease

Anderson, R. A., Byrum, R. S., Coates, P. M., & Sando, G. N. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.7.2718 · Cited by 142

STARD4 abundance regulates sterol transport and sensing

Mesmin, B., Pipalia, N. H., Lund, F. W., Ramlall, T. F., Sokolov, A., Eliezer, D., & Maxfield, F. R. (2011) · Molecular Biology of the Cell · doi:10.1091/mbc.e11-04-0372 · Cited by 142

Construction and function of fusion enzymes of the human cytochrome P450scc system

HARIKRISHNA, J. A., BLACK, S. M., SZKLARZ, G. D., & MILLER, W. L. (1993) · DNA and Cell Biology · doi:10.1089/dna.1993.12.371 · Cited by 141

Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years

HAUFFA, B. P., MILLER, W. L., GRUMBACH, M. M., CONTE, F. A., & KAPLAN, S. L. (1985) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1985.tb01107.x · Cited by 141

Human adrenodoxin: cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells

Picado-Leonard, J., Voutilainen, R., Kao, L. C., Chung, B. C., Strauss, J. F., & Miller, W. L. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)69061-1 · Cited by 140

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Kim, C. J., Lin, L., Huang, N., Quigley, C. A., AvRuskin, T. W., Achermann, J. C., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2330 · Cited by 139

The Structure of Adrenodoxin Reductase of Mitochondrial P 450 Systems: Electron Transfer for Steroid Biosynthesis

Ziegler, G. A., Vonrhein, C., Hanukoglu, I., & Schulz, G. E. (1999) · Journal of Molecular Biology · doi:10.1006/jmbi.1999.2807 · Cited by 138

The changing landscape in translocator protein (TSPO) function

Selvaraj, V., & Stocco, D. M. (2015) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2015.02.007 · Cited by 137

Mitogenic action, regulation, and localization of insulin-like growth factors in the human fetal adrenal gland.

Mesiano, S., Mellon, S. H., & Jaffe, R. B. (1993) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.76.4.8473412 · Cited by 135

Conditional steroidogenic cell-targeted deletion of TSPO unveils a crucial role in viability and hormone-dependent steroid formation

Fan, J., Campioli, E., Midzak, A., Culty, M., & Papadopoulos, V. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1502670112 · Cited by 133

The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc

Black, S. M., Harikrishna, J. A., Szklarz, G. D., & Miller, W. L. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.15.7247 · Cited by 133

Comparative Structural Analysis of Lipid Binding START Domains

Thorsell, A. G., Lee, W. H., Persson, C., Siponen, M. I., Nilsson, M. E., Busam, R. D., Kotenyova, T., Schuler, H., & Lehtiö, L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019521 · Cited by 132

Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1

Bose, H. S., Sato, S., Aisenberg, J., Shalev, S. A., Matsuo, N., & Miller, W. L. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.10.6896 · Cited by 131

The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease.

Pentchev, P. G., Comly, M. E., Kruth, H. S., Patel, S., Proestel, M., & Weintroub, H. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)35852-0 · Cited by 128

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Giese, A., Mascher, H. J., Grittner, U., Eichler, S., Kramp, G. J., Lukáš, J., Vruchte, D. T., Eisa, N. A., Cortina‐Borja, M., Porter, F. D., et al. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0274-1 · Cited by 128

Osh Proteins Regulate Membrane Sterol Organization but Are Not Required for Sterol Movement Between the ER and PM

Georgiev, A. G., Sullivan, D. P., Kersting, M. C., Dittman, J. S., Beh, C. T., & Menon, A. K. (2011) · Traffic · doi:10.1111/j.1600-0854.2011.01234.x · Cited by 126

Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans

Katsumata, N., Ohtake, M., Hojo, T., Ogawa, E., Hara, T., Sato, N., & Tanaka, T. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8763 · Cited by 125

The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1

Greer, W. L., Riddell, D. C., Gillan, T. L., Girouard, G. S., Sparrow, S. M., Byers, D. M., Dobson, M. J., & Neumann, P. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301931 · Cited by 124

T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

Tee, M.-K., Lin, D., Sugawara, T., Holt, J. A., Guiguen, Y., Buckingham, B., Strauss, J. F., & Miller, W. L. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2299 · Cited by 122

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

Ottinger, E., Kao, M., Carrillo-Carrasco, N., Yanjanin, N., Shankar, R., Janssen, M., Brewster, M., Scott, I., Xu, X., Cradock, J., et al. (2014) · Current Topics in Medicinal Chemistry · doi:10.2174/1568026613666131127160118 · Cited by 121

Characterization of a Serine Protease that Cleaves Pro-γ-Melanotropin at the Adrenal to Stimulate Growth

Bicknell, A. B., Lomthaisong, K., Woods, R. J., Hutchinson, E. G., Bennett, H. P. J., Gladwell, R. T., & Lowry, P. J. (2001) · Cell · doi:10.1016/s0092-8674(01)00403-2 · Cited by 120

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

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Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Hiort, O., Holterhus, P.-M., Werner, R., Marschke, C., Hoppe, U., Partsch, C.-J., Riepe, F. G., Achermann, J. C., & Struve, D. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1059 · Cited by 120

Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia

Lin, D., Gitelman, S. E., Saenger, P., & Miller, W. L. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115520 · Cited by 120

Linkage of Niemann-Pick disease type C to human chromosome 18.

Carstea, E. D., Polymeropoulos, M. H., Parker, C. C., Detera‐Wadleigh, S. D., O'Neill, R. R., Patterson, M. C., Goldin, E., Xiao, H., Straub, R. E., & Vanier, M. T. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.2002 · Cited by 120

The dare gene: steroid hormone production, olfactory behavior, and neural degeneration in Drosophila

Freeman, M. R., Dobritsa, A., Gaines, P., Segraves, W. A., & Carlson, J. R. (1999) · Development · doi:10.1242/dev.126.20.4591 · Cited by 119

Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins

Soccio, R. E., Adams, R. M., Maxwell, K. N., & Breslow, J. L. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m501778200 · Cited by 118

Human P450scc gene transcription is induced by cyclic AMP and repressed by 12-O-tetradecanoylphorbol-13-acetate and A23187 through independent cis elements.

Moore, C. C., Brentano, S. T., & Miller, W. L. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.11.6013 · Cited by 118

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

Lyseng-Williamson, K. A. (2013) · Drugs · doi:10.1007/s40265-013-0164-6 · Cited by 114

START ships lipids across interorganelle space

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Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol

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Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

Sahakitrungruang, T., Tee, M. K., Blackett, P. R., & Miller, W. L. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1828 · Cited by 111

Hormone-Sensitive Lipase Is Required for High-Density Lipoprotein Cholesteryl Ester-Supported Adrenal Steroidogenesis

Kraemer, F. B., Shen, W., Harada, K., Patel, S., Osuga, J.-I., Ishibashi, S., & Azhar, S. (2003) · Molecular Endocrinology · doi:10.1210/me.2003-0179 · Cited by 108

Nonvesicular Lipid Transfer from the Endoplasmic Reticulum

Lev, S. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a013300 · Cited by 103

N-218 MLN64, a protein with StAR-like steroidogenic activity, is folded and cleaved similarly to StAR

Bose, H. S., Whittal, R. M., Huang, M.-C., Baldwin, M. A., & Miller, W. L. (2000) · Biochemistry · doi:10.1021/bi000911l · Cited by 101

Intermediates in the conversion of cholesterol to pregnenolone: Kinetics and mechanism

Burstein, S., & Gut, M. (1976) · Steroids · doi:10.1016/0039-128x(76)90131-8 · Cited by 101

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen → q25 are expressed in steroidogenic tissues

Solish, S. B., Picado-Leonard, J., Morel, Y., Kuhn, R. W., Mohandas, T. K., Hanukoglu, I., & Miller, W. L. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.19.7104 · Cited by 101

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

Klima, H., Ullrich, K., Aslanidis, C., Fehringer, P., Lackner, K. J., & Schmitz, G. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116888 · Cited by 101

Identification of Luminal Loop 1 of Scap Protein as the Sterol Sensor That Maintains Cholesterol Homeostasis

Motamed, M., Zhang, Y., Wang, M. L., Seemann, J., Kwon, H. J., Goldstein, J. L., & Brown, M. S. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.238311 · Cited by 98

Targeted Mutation of the MLN64 START Domain Causes Only Modest Alterations in Cellular Sterol Metabolism

Kishida, T., Kostetskii, I., Zhang, Z., Martı́nez, F., Liu, P., Walkley, S. U., Dwyer, N. K., Blanchette‐Mackie, E. J., Radice, G. L., & Strauss, J. F. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m400717200 · Cited by 97

Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease

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De Novo Synthesis of Steroids and Oxysterols in Adipocytes

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Molecular recognition and electron transfer in mitochondrial steroid hydroxylase systems

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Cholesterol ester storage disease: Clinical, biochemical, and pathological studies

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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia

Flück, C. E., Pandey, A. V., Dick, B., Camats, N., Fernández-Cancio, M., Clemente, M., Gussinyé, M., Carrascosa, A., Mullis, P. E., & Audi, L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020178 · Cited by 94

Molecular Cloning, Genomic Organization, and Expression of a Testicular Isoform of Hormone-Sensitive Lipase

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Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C

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Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR)

Sahakitrungruang, T., Soccio, R. E., Lang-Muritano, M., Walker, J. M., Achermann, J. C., & Miller, W. L. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0437 · Cited by 91

EVIDENCE FOR DEFICIENT 20α-CHOLESTEROL-HYDROXYLASE ACTIVITY IN ADRENAL TISSUE OF A PATIENT WITH LIPOID ADRENAL HYPERPLASIA

Degenhart, H. J., Visser, H. K. A., Boon, H., & O'Doherty, N. J. (1972) · Acta Endocrinologica · doi:10.1530/acta.0.0710512 · Cited by 89

Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

Tee, M. K., Abramsohn, M., Loewenthal, N., Harris, M., Siwach, S., Kaplinsky, A., Markus, B., Birk, O., Sheffield, V. C., Pavari, R., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2828 · Cited by 89

Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR

Baker, B. Y., Epand, R. F., Epand, R. M., & Miller, W. L. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m611221200 · Cited by 89

Study of Cholesterol Side-Chain Cleavage (20,22 Desmolase) Deficiency Causing Congenital Lipoid Adrenal Hyperplasia Using Bovine-Sequence P450scc Oligodeoxyribonucleotide Probes*

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Congenital Adrenal Hyperplasia Due to a Deficiency of One of the Enzymes Involved in the Biosynthesis of Pregnenolone

Camacho, A. M., Kowarski, A., Migeon, C. J., & Brough, A. J. (1968) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-28-2-153 · Cited by 87

The human peripheral renzodiazepine receptor gene: Cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia

Lin, D., Chang, Y. J., Strauss, J. F., & Miller, W. L. (1993) · Genomics · doi:10.1016/s0888-7543(05)80367-2 · Cited by 86

Basic fibroblast growth factor expression is regulated by corticotropin in the human fetal adrenal: a model for adrenal growth regulation

Mesiano, S., Mellon, S. H., Gospodarowicz, D., Di Blasio, A. M., & Jaffe, R. B. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.12.5428 · Cited by 85

Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female

KIRKLAND, R. T., KIRKLAND, J. L., JOHNSON, C. M., HORNING, M. G., LIBRIK, L., & CLAYTON, G. W. (1973) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-36-3-488 · Cited by 84

A Novel Homozygous Mutation in CYP11A1 Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient

Rubtsov, P., Karmanov, M., Sverdlova, P., Spirin, P., & Tiulpakov, A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1118 · Cited by 82

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Clark, A. J. L., Metherell, L. A., Cheetham, M. E., & Huebner, A. (2005) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2005.10.006 · Cited by 82

Insights into steroidogenic acute regulatory protein (StAR)-dependent cholesterol transfer in mitochondria: evidence from molecular modeling and structure-based thermodynamics supporting the existence of partially unfolded states of StAR

Mathieu, A., Fleury, A., Ducharme, L., Lavigne, P., & LeHoux, J. (2002) · Journal of Molecular Endocrinology · doi:10.1677/jme.0.0290327 · Cited by 82

Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann‐Pick C mice

Ahmad, I. N., Lope‐Piedrafita, S., Bi, X., Hicks, C., Yao, Y., Yu, C., Chaitkin, E., Howison, C. M., Weberg, L., Trouard, T. P., et al. (2005) · Journal of Neuroscience Research · doi:10.1002/jnr.20685 · Cited by 81

Prenatal diagnosis of congenital lipoid adrenal hyperplasia.

Saenger, P., Klonari, Z., Black, S. M., Compagnone, N., Mellon, S. H., Fleischer, A., Abrams, C. A., Shackelton, C. H., & Miller, W. L. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.1.7829612 · Cited by 81

The Effect of Mevinolin on Steroidogenesis in Patients with Defects in the Low Density Lipoprotein Receptor Pathway

Laue, L., Hoeg, J. M., Barnes, K. M., Loriaux, D. L., & Chrousos, G. P. (1987) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-64-3-531 · Cited by 81

Imaging of the adrenal gland in children.

Westra, S. J., Zaninovic, A., Hall, T. R., Kangarloo, H., & Boechat, M. I. (1994) · Radiographics · doi:10.1148/radiographics.14.6.7855344 · Cited by 79

A pH-dependent molten globule transition is required for activity of the steroidogenic acute regulatory protein, StAR

Baker, B. Y., Yaworsky, D. C., & Miller, W. L. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m510241200 · Cited by 79

snoRNA U17 Regulates Cellular Cholesterol Trafficking

Jinn, S., Brandis, K. A., Ren, A. A., Chacko, A., Dudley-Rucker, N., Gale, S. E., Sidhu, R., Fujiwara, H., Jiang, H., Olsen, B. N., et al. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.04.010 · Cited by 78

Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc

Huang, N., & Miller, W. L. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.4.2852 · Cited by 77

Gonadal and extragonadal functions of Ad4BP/SF-1: developmental aspects

Morohashi, K.-I. (1999) · Trends in Endocrinology & Metabolism · doi:10.1016/s1043-2760(98)00142-8 · Cited by 77

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings

Chen, X., Baker, B. Y., Abduljabbar, M. A., & Miller, W. L. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1323 · Cited by 76

σ-1 receptor at the mitochondrial-associated endoplasmic reticulum membrane is responsible for mitochondrial metabolic regulation

Marriott, K.-S. C., Prasad, M., Thapliyal, V., & Bose, H. S. (2012) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.112.198168 · Cited by 75

StAR-like activity and molten globule behavior of StARD6, a male germ-line protein

Bose, H. S., Whittal, R. M., Ran, Y., Bose, M., Baker, B. Y., & Miller, W. L. (2008) · Biochemistry · doi:10.1021/bi701966a · Cited by 74

Lost in translocation: the functions of the 18-kD translocator protein

Gut, P., Zweckstetter, M., & Banati, R. B. (2015) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2015.04.001 · Cited by 72

How Does Progesterone Relax the Uterus in Pregnancy?

Zakár, T., & Mesiano, S. A. (2011) · New England Journal of Medicine · doi:10.1056/nejmcibr1100071 · Cited by 72

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Pajares, S., Arias, Á., García‐Villoria, J., Macías‐Vidal, J., Ros, E., Heras, J. D. L., Girós, M., Coll, M. J., & Ribes, A. (2015) · Journal of Lipid Research · doi:10.1194/jlr.m060343 · Cited by 71

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

Chan, L. F., Campbell, D. C., Novoselova, T. V., Clark, A., & Metherell, L. (2015) · Frontiers in Endocrinology · doi:10.3389/fendo.2015.00113 · Cited by 71

Functional characterization of the MENTAL domain

Alpy, F., Latchumanan, V. K., Kedinger, V., Janoshazi, A., Thiele, C., Wendling, C., Rio, M.-C., & Tomasetto, C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m500723200 · Cited by 71

Serum Antithyroglobulin Antibodies Interfere with Thyroglobulin Detection in Fine-Needle Aspirates of Metastatic Neck Nodes in Papillary Thyroid Carcinoma

Jeon, M. J., Park, J. W., Han, J. M., Yim, J. H., Song, D. E., Gong, G., Kim, T. Y., Baek, J. H., Lee, J. H., Shong, Y. K., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2369 · Cited by 71

Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease)

Shoichi, K., Seizo, K., Toshio, M., Hiroshi, K., Takashi, F., Hironori, N., Yasuji, N., Goroku, O., Eiji, I., & Masayuki, K. (1977) · Clinica Chimica Acta · doi:10.1016/0009-8981(77)90233-9 · Cited by 69

Congenital adrenal hyperplasia

El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556

Genetics of congenital adrenal hyperplasia

Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312

Steroidogenesis: Unanswered Questions

Miller, W. L. (2017) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2017.09.002 · Cited by 226

Mitochondrial Function in Modulating Human Granulosa Cell Steroidogenesis and Female Fertility

Urs, D. B. S., Wu, W.-H., Komrsková, K., Manaskova-Postlerova, P., Lin, Y., Tzeng, C., & Kao, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103592 · Cited by 194

Disorders in the Initial Steps in Steroidogenesis

Miller, W. L., & Gucev, Z. S. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00011-9 · Cited by 7

“What lies beneath:” Unraveling Nieman–Pick type C disease in adults

Lourenço, C. M., Rodrigues, G. R., Tumas, V., Timm, F., Giugliani, R., & Marques, W. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.11.155

Role of Mitochondria in Steroidogenesis

Miller, W. L. (2011) · Endocrine Development · doi:10.1159/000321204 · Cited by 57

Early steps in steroidogenesis: intracellular cholesterol trafficking

Miller, W. L., & Bose, H. S. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r016675 · Cited by 593

Congenital Lipoid Adrenal Hyperplasia

Miller, W. L. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1112-7_4 · Cited by 3