David W Russell

Summary

Affiliation: University of Texas Southwestern Medical Center
Country: USA

Publications

  1. ncbi Oxysterol biosynthetic enzymes
    D W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75235 9046, USA
    Biochim Biophys Acta 1529:126-35. 2000
  2. pmc Fifty years of advances in bile acid synthesis and metabolism
    David W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9046, USA
    J Lipid Res 50:S120-5. 2009
  3. pmc Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family
    Jeffrey B Cheng
    Department of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 279:37798-807. 2004
  4. pmc Biphasic requirement for geranylgeraniol in hippocampal long-term potentiation
    Tiina Kotti
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 105:11394-9. 2008
  5. ncbi Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration
    Chonglun Xie
    Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390 8887, USA
    J Lipid Res 44:1780-9. 2003
  6. pmc Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain
    David W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Annu Rev Biochem 78:1017-40. 2009
  7. pmc Cholic acid mediates negative feedback regulation of bile acid synthesis in mice
    Jia Li-Hawkins
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9046, USA
    J Clin Invest 110:1191-200. 2002
  8. pmc Delineation of biochemical, molecular, and physiological changes accompanying bile acid pool size restoration in Cyp7a1(-/-) mice fed low levels of cholic acid
    Ryan D Jones
    Department of Internal Medicine, University of Texas Southwestern Medical School, Dallas, TX 75390 9151, USA
    Am J Physiol Gastrointest Liver Physiol 303:G263-74. 2012
  9. pmc Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function
    Heidi C Shea
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 104:11526-33. 2007
  10. pmc Enzymatic reduction of oxysterols impairs LXR signaling in cultured cells and the livers of mice
    Wenling Chen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Cell Metab 5:73-9. 2007

Collaborators

  • Jeffrey G McDonald
  • Stephen D Turley
  • Erik G Lund
  • David J Mangelsdorf
  • Kenneth D R Setchell
  • Michael A Levine
  • Ingemar Bjorkhem
  • Charles E McKenna
  • Takahito Yamamoto
  • JOHN DIETSCHY
  • Xian Li
  • Ronald Sokol
  • JAY HORTON
  • L Bretillon
  • D A Andres
  • M Schwarz
  • Jeffrey B Cheng
  • Denise M O Ramirez
  • David R Bauman
  • Ryan D Jones
  • J Li-Hawkins
  • Rebekkah W Halford
  • Ashlee R Stiles
  • Tiina Kotti
  • D L Davis
  • Daphne D Head
  • Heidi C Shea
  • Wenling Chen
  • Yildiz Yildiz
  • Tiina J Kotti
  • Chonglun Xie
  • Jia Li-Hawkins
  • Thomas A Kerr
  • B R Vick
  • B A Janowski
  • N Bogdanovic
  • Joyce J Repa
  • H Tian
  • J J Repa
  • Bonne M Thompson
  • Andrew D Bitmansour
  • Guosheng Liang
  • Stefan Andersson
  • Daphne L Head
  • Guoxen Chen
  • Jeremy C Allegood
  • Robert E Hammer
  • Heidrun Matern
  • Brad E Pfeiffer
  • Rebekkah L Warren
  • Siegfried Matern
  • Kimberly M Huber
  • Bonne Thompson
  • F Kent Hamra
  • M G Biswas
  • Norman H Bell
  • S L McKnight
  • Y D Zhou
  • James E Heubi
  • Marie Gerhardt
  • Danièle Cresteil
  • Hisham Nazer
  • Emmanuel Jacquemin
  • Daniel L Motola
  • Sara Berdy
  • Thadd Redder
  • Ulla Andersson
  • Maria Olin
  • Shigeru Saeki
  • Manfred Schneider
  • Gosta Eggertsen
  • Gertrud Schuster
  • Karen Schaefer
  • Mats Gafvels
  • Margrit Schwarz
  • Bei Shan
  • B Shan
  • E Leitersdorf
  • L Lannfelt
  • B Winblad
  • S Andersson
  • U Diczfalusy
  • H Nazer
  • A D Bronson
  • A C Wright
  • W M Geissler
  • U Francke
  • J Shelton
  • M Barnard
  • J Richardson

Detail Information

Publications65

  1. ncbi Oxysterol biosynthetic enzymes
    D W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75235 9046, USA
    Biochim Biophys Acta 1529:126-35. 2000
    ..This article focuses on the properties of these enzymes...
  2. pmc Fifty years of advances in bile acid synthesis and metabolism
    David W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9046, USA
    J Lipid Res 50:S120-5. 2009
    ..This review highlights findings in cholesterol catabolism from the last five decades with special emphasis on advances in bile acid synthesis, transport, and regulation...
  3. pmc Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family
    Jeffrey B Cheng
    Department of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 279:37798-807. 2004
    ..The data suggest that wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes...
  4. pmc Biphasic requirement for geranylgeraniol in hippocampal long-term potentiation
    Tiina Kotti
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 105:11394-9. 2008
    ..We conclude that geranylgeraniol acts specifically and quickly to affect LTP in the Schaffer collaterals of the hippocampus...
  5. ncbi Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration
    Chonglun Xie
    Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390 8887, USA
    J Lipid Res 44:1780-9. 2003
    ..The other probably involves the movement of cholesterol or one of its metabolites across the blood-brain barrier and may more closely mirror sterol turnover in pools such as glial cell membranes and myelin...
  6. pmc Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain
    David W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Annu Rev Biochem 78:1017-40. 2009
    ..This review focuses on how the link between cholesterol metabolism and higher-order brain function was experimentally established...
  7. pmc Cholic acid mediates negative feedback regulation of bile acid synthesis in mice
    Jia Li-Hawkins
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9046, USA
    J Clin Invest 110:1191-200. 2002
    ..Cholate restores CYP7A1 regulation in vivo and in vitro. The results implicate cholate as an important negative regulator of bile acid synthesis and provide preliminary evidence for ligand-specific gene activation by a nuclear receptor...
  8. pmc Delineation of biochemical, molecular, and physiological changes accompanying bile acid pool size restoration in Cyp7a1(-/-) mice fed low levels of cholic acid
    Ryan D Jones
    Department of Internal Medicine, University of Texas Southwestern Medical School, Dallas, TX 75390 9151, USA
    Am J Physiol Gastrointest Liver Physiol 303:G263-74. 2012
    ..These findings underscore the importance of using moderate dietary BA levels in studies with animal models...
  9. pmc Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function
    Heidi C Shea
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 104:11526-33. 2007
    ..We conclude that the correct stereochemistry of a single hydroxyl group at carbon 3 in bile acids is required to maintain their physiologic and regulatory functions in mammals...
  10. pmc Enzymatic reduction of oxysterols impairs LXR signaling in cultured cells and the livers of mice
    Wenling Chen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Cell Metab 5:73-9. 2007
    ..We conclude that oxysterols are in vivo ligands for LXR...
  11. ncbi Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover
    Erik G Lund
    Department of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 9046, USA
    J Biol Chem 278:22980-8. 2003
    ..We conclude that cholesterol 24-hydroxylase constitutes a major tissue-specific pathway for cholesterol turnover in the brain...
  12. pmc Brain cholesterol turnover required for geranylgeraniol production and learning in mice
    Tiina J Kotti
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 103:3869-74. 2006
    ..We conclude that cholesterol turnover in brain activates the mevalonate pathway and that a constant production of geranylgeraniol in a small subset of neurons is required for LTP and learning...
  13. pmc 25-Hydroxycholesterol secreted by macrophages in response to Toll-like receptor activation suppresses immunoglobulin A production
    David R Bauman
    Department of Molecular Genetics and The Cancer Immunobiology Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 106:16764-9. 2009
    ..The suppression of IgA class switching in B cells by a macrophage-derived sterol in response to TLR activation provides a mechanism for local and systemic negative regulation of the adaptive immune response by the innate immune system...
  14. pmc Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
    Jeffrey B Cheng
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 101:7711-5. 2004
    ..These data identify CYP2R1 as a biologically relevant vitamin D 25-hydroxylase and reveal the molecular basis of a human genetic disease, selective 25-hydroxyvitamin D deficiency...
  15. doi Neuronal expression and subcellular localization of cholesterol 24-hydroxylase in the mouse brain
    Denise M O Ramirez
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Comp Neurol 507:1676-93. 2008
    ..These findings reveal the microsomal localization of 24-hydroxylase and provide subcellular insight into cholesterol turnover in the brain...
  16. ncbi The enzymes, regulation, and genetics of bile acid synthesis
    David W Russell
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas 75390 9046, USA
    Annu Rev Biochem 72:137-74. 2003
    ..Inherited mutations that impair bile acid synthesis cause a spectrum of human disease; this ranges from liver failure in early childhood to progressive neuropathy in adults...
  17. pmc Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
    Yildiz Yildiz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Clin Invest 116:2985-94. 2006
    ..We conclude that GBA2 is a glucosylceramidase whose loss causes accumulation of glycolipids and an endoplasmic reticulum storage disease...
  18. pmc Reduction of cholesterol synthesis in the mouse brain does not affect amyloid formation in Alzheimer's disease, but does extend lifespan
    Rebekkah W Halford
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 106:3502-6. 2009
    ..These studies suggest that reducing de novo cholesterol synthesis in the brain will not substantially alter the course of Alzheimer's disease, but may confer a survival advantage...
  19. pmc CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions
    Ashlee R Stiles
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9046, USA
    J Biol Chem 284:28485-9. 2009
    ..The role of CYP7B1 in brain is under investigation; recent studies show that spastic paraplegia type 5, a progressive neuropathy, is caused by loss-of-function mutations in the human gene...
  20. pmc A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma
    Jeffrey G McDonald
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    J Lipid Res 53:1399-409. 2012
    ..Application of this method to plasma samples revealed that at least 50 samples could be extracted in a routine day...
  21. pmc Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions
    Jeffrey B Cheng
    Department of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 279:37789-97. 2004
    ..The data suggest that fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids...
  22. ncbi De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase
    Jeffrey B Cheng
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75390, USA
    J Biol Chem 278:38084-93. 2003
    ..CYP2R1 mRNA is abundant in the liver and testis, and present at lower levels in other tissues. The data suggest that CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase...
  23. ncbi Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease
    Jeffrey B Cheng
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9046, USA
    J Clin Endocrinol Metab 88:1833-41. 2003
    ..We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis...
  24. ncbi Loss of nuclear receptor SHP impairs but does not eliminate negative feedback regulation of bile acid synthesis
    Thomas A Kerr
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75390, USA
    Dev Cell 2:713-20. 2002
    ..We conclude that input from three negative regulatory pathways controls bile acid synthesis. One is mediated by SHP, and two are SHP independent and invoked by liver damage and changes in bile acid pool size...
  25. ncbi Extraction and analysis of sterols in biological matrices by high performance liquid chromatography electrospray ionization mass spectrometry
    Jeffrey G McDonald
    Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA
    Methods Enzymol 432:145-70. 2007
    ..The extraction procedure described is flexible and can be tailored to sample type or information sought. The instrumental analysis method is similarly adaptable and offers high selectivity and sensitivity...
  26. ncbi Identification and characterization of a mouse oxysterol 7alpha-hydroxylase cDNA
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 272:23995-4001. 1997
    ..The liver thus maintains the capacity to synthesize 7alpha-hydroxylated bile acids regardless of dietary composition, underscoring the central role of 7alpha-hydroxylated bile acids in lipid metabolism...
  27. ncbi On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells
    N Bogdanovic
    Division of Geriatric Medicine, Karolinska Institutet, Huddinge University Hospital, Huddinge, Sweden
    Neurosci Lett 314:45-8. 2001
    ..The dynamic changes in the mechanisms for cholesterol efflux from the brain are of interest in relation to the link between brain cholesterol and amyloid beta-protein in AD...
  28. ncbi Alternate pathways of bile acid synthesis in the cholesterol 7alpha-hydroxylase knockout mouse are not upregulated by either cholesterol or cholestyramine feeding
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Blvd, Dallas, TX 75390, USA
    J Lipid Res 42:1594-603. 2001
    ....
  29. ncbi Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis
    J J Cali
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Biol Chem 266:7774-8. 1991
    ....
  30. pmc The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Clin Invest 106:1175-84. 2000
    ....
  31. ncbi Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding
    J J Repa
    Departments of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 275:39685-92. 2000
    ..These studies confirm the importance of CYP27 in bile acid synthesis and they reveal an unexpected function of the enzyme in triacylglycerol metabolism...
  32. ncbi Disruption of cholesterol 7alpha-hydroxylase gene in mice. II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 271:18024-31. 1996
    ..In older animals, an alternate pathway of bile acid synthesis involving an inducible oxysterol 7alpha-hydroxylase plays a crucial role in lipid and bile acid metabolism...
  33. ncbi Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol
    J Li-Hawkins
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 275:16543-9. 2000
    ....
  34. pmc cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain
    E G Lund
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235 9046, USA
    Proc Natl Acad Sci U S A 96:7238-43. 1999
    ..We conclude that the cloned cDNAs encode cholesterol 24-hydroxylases that synthesize oxysterols in neurons of the brain and that secretion of 24S-hydroxycholesterol from this tissue in the mouse is developmentally regulated...
  35. ncbi cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism
    E G Lund
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 273:34316-27. 1998
    ....
  36. ncbi Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis
    D F Jelinek
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Biol Chem 265:8190-7. 1990
    ..These results suggest that bile acids and sterols are able to alter the transcription of the 7 alpha-hydroxylase gene and that this control explains the previously observed feedback regulation of bile acid synthesis...
  37. ncbi Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    J J Cali
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Biol Chem 266:7779-83. 1991
    ..These findings underscore the essential role played by sterols in the central nervous system and suggest that mutations in other sterol metabolizing enzymes may contribute to diseases with neurological manifestations...
  38. ncbi Two 7 alpha-hydroxylase enzymes in bile acid biosynthesis
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235 9046, USA
    Curr Opin Lipidol 9:113-8. 1998
    ..cDNAs encoding these proteins have been isolated and used to define two evolutionarily conserved pathways that produce 7 alpha-hydroxylated bile acids...
  39. pmc Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease
    K D Setchell
    Clinical Mass Spectrometry Center, Department of Pediatrics, Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    J Clin Invest 102:1690-703. 1998
    ..These findings indicate the quantitative importance of the acidic pathway in early life in humans and define a further inborn error in bile acid synthesis as a metabolic cause of severe cholestatic liver disease...
  40. ncbi Expression cloning and regulation of steroid 5 alpha-reductase, an enzyme essential for male sexual differentiation
    S Andersson
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Biol Chem 264:16249-55. 1989
    ..The data suggest that the steroid 5 alpha-reductase gene is differentially regulated by testosterone in androgen-responsive versus non-responsive tissues...
  41. ncbi Genetic analysis of cholesterol accumulation in inbred mice
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9046, USA
    J Lipid Res 42:1812-9. 2001
    ..We conclude that a large number of genes affects the amount of cholesterol absorbed in the small intestine and its accumulation in the liver and plasma of inbred mice...
  42. ncbi Genetic analysis of intestinal cholesterol absorption in inbred mice
    M Schwarz
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9046, USA
    J Lipid Res 42:1801-11. 2001
    ....
  43. ncbi Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain
    M A Lehrman
    Cell 41:735-43. 1985
    ..These data suggest that the signal for targeting the LDL receptor to coated pits resides in the cytoplasmic domain of the molecule...
  44. ncbi Molecular cloning of bovine LDL receptor cDNAs
    D W Russell
    Methods Enzymol 128:895-909. 1986
    ..Antipeptide antibodies directed against regions of the predicted protein sequence specifically recognize the purified bovine receptor. These findings provide an independent confirmation of the identity of pLDLR-1...
  45. pmc Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions
    H H Hobbs
    Department of Molecular Genetics, University of Texas Health Science Center, Dallas 75235
    J Clin Invest 81:909-17. 1988
    ..The current studies demonstrate that mRNA analysis coupled with haplotype determination by Southern blot analysis can be used to classify crm- mutations at a genetic locus where multiple alleles exist...
  46. pmc Deduced primary structure of the alpha subunit of the GTP-binding stimulatory protein of adenylate cyclase
    J D Robishaw
    Proc Natl Acad Sci U S A 83:1251-5. 1986
    ..Comparison of the deduced amino acid sequence of Gs alpha with the alpha subunit of another G protein, transducin, revealed striking homologies...
  47. ncbi Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit
    T Yamamoto
    Science 232:1230-7. 1986
    ..These findings suggest that animal cells may have fail-safe mechanisms that prevent the surface expression of improperly folded proteins with unpaired or improperly bonded cysteine residues...
  48. ncbi The LDL receptor gene: a mosaic of exons shared with different proteins
    T C Sudhof
    Science 228:815-22. 1985
    ..The LDL receptor appears to be a mosaic protein built up of exons shared with different proteins, and it therefore belongs to several supergene families...
  49. pmc Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases
    S Andersson
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    Proc Natl Acad Sci U S A 87:3640-4. 1990
    ..However, synthetic 4-azasteroids demonstrated marked differences in their abilities to inhibit the human and rat steroid 5 alpha-reductases...
  50. ncbi cDNA cloning and expression of the peptide-binding beta subunit of rat p21ras farnesyltransferase, the counterpart of yeast DPR1/RAM1
    W J Chen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    Cell 66:327-34. 1991
    ..The rat beta subunit shows 37% sequence identity with the protein encoded by the yeast DPR1/RAM1 gene, indicating that DPR1/RAM1 is the yeast counterpart of the peptide-binding subunit of the mammalian farnesyltransferase...
  51. ncbi Tissue distribution and kinetic characteristics of rat steroid 5 alpha-reductase isozymes. Evidence for distinct physiological functions
    K Normington
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Biol Chem 267:19548-54. 1992
    ..The differences in substrate affinities and tissue distributions of the 5 alpha-reductase isozymes suggest that type 2 plays an anabolic role and type 1 a catabolic role in the metabolism of androgens and other steroid hormones...
  52. ncbi Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12
    J C Cohen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    Genomics 14:153-61. 1992
    ....
  53. ncbi The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
    C G Davis
    Cell 45:15-24. 1986
    ..These results support the hypothesis that cytoplasmic domains direct receptors to coated pits, thereby determining the high rate of receptor internalization in animal cells...
  54. ncbi The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA
    T Yamamoto
    Cell 39:27-38. 1984
    ..Transfection of simian COS cells with the human LDL receptor cDNA linked to the SV40 early promoter resulted in expression of functional cell surface receptors...
  55. ncbi The hypocholesterolemic agent LY295427 reverses suppression of sterol regulatory element-binding protein processing mediated by oxysterols
    B A Janowski
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA
    J Biol Chem 276:45408-16. 2001
    ..LY295427 overcame the suppression of SREBP processing mediated by several oxysterols but not by LDL-derived cholesterol. We conclude that LY295427 achieves a therapeutically desirable end point by an unique mechanism of action...
  56. ncbi Disruption of the oxysterol 7alpha-hydroxylase gene in mice
    J Li-Hawkins
    Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 275:16536-42. 2000
    ..A failure to catabolize oxysterols in the male kidney may lead to a decrease in de novo sterol synthesis...
  57. ncbi Marked reduction in bile acid synthesis in cholesterol 7alpha-hydroxylase-deficient mice does not lead to diminished tissue cholesterol turnover or to hypercholesterolemia
    M Schwarz
    Department of Molecular Genetics, The University of Texas Southwestern Medical Center at Dallas, 75235, USA
    J Lipid Res 39:1833-43. 1998
    ....
  58. ncbi Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate
    M G Biswas
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75235 9046, USA
    J Biol Chem 272:15959-66. 1997
    ..The synthesis of an active steroid hormone by back conversion of an inactive metabolite represents a potentially important mechanism by which the steady state level of a transcriptional effector can be regulated...
  59. pmc Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system
    Y D Zhou
    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Proc Natl Acad Sci U S A 94:713-8. 1997
    ..The chromosomal regions to which human NPAS1 and NPAS2 map are syntenic with those containing the mouse Npas1 and Npas2 genes, indicating that the mouse and human genes are true homologs...
  60. ncbi Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells
    H Tian
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Genes Dev 11:72-82. 1997
    ..These observations raise the possibility that EPAS1 may represent an important regulator of vascularization, perhaps involving the regulation of endothelial cell gene expression in response to hypoxia...
  61. ncbi Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3
    W M Geissler
    Department of Biochemistry, Merck Research Laboratories, Rahway, New Jersey 07065
    Nat Genet 7:34-9. 1994
    ..Four substitution and two splice junction mutations were identified in the 17 beta HSD3 genes of five unrelated male pseudohermaphrodites. The substitution mutations severely compromised the activity of the 17 beta-HSD type 3 isozyme...
  62. pmc Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression
    A E Thigpen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Clin Invest 92:903-10. 1993
    ....
  63. ncbi Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor
    D W Russell
    Cell 37:577-85. 1984
    ..This unexpected homology raises the possibility that proteins involved in growth stimulation (e.g., EGF precursor) and nutrient delivery (e.g., LDL receptor) may have a common evolutionary origin...
  64. pmc cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA
    D W Russell
    Proc Natl Acad Sci U S A 80:7501-5. 1983
    ..Southern blot analysis of bovine genomic DNA with 32P-labeled pLDLR-1 revealed a simple pattern of hybridization, consistent with a single-copy gene containing introns...
  65. pmc Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase
    E P Jenkins
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Clin Invest 89:293-300. 1992
    ..The results provide genetic, biochemical, and pharmacological support for the existence of at least two steroid 5 alpha-reductase isozymes in man...