Literature DB >> 9579167

Disorders of cholesterol biosynthesis.

P T Clayton1.   

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Year:  1998        PMID： 9579167      PMCID： PMC1717457          DOI： 10.1136/adc.78.2.185

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  36 in total

1.  Effect of serum lipoproteins on growth and sterol synthesis in cultured rat brain glial cells.

Authors:  S N Shah; R C Johnson
Journal:  J Neurochem       Date:  1988-05       Impact factor: 5.372

2.  Placental transfer of cholesterol into the human fetus.

Authors:  D S Lin; R M Pitkin; W E Connor
Journal:  Am J Obstet Gynecol       Date:  1977-08-01       Impact factor: 8.661

3.  Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.

Authors:  K M Gibson; G F Hoffmann; L Sweetman; B Buckingham
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

4.  Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

Authors:  R Berger; G P Smit; H Schierbeek; K Bijsterveld; R le Coultre
Journal:  Clin Chim Acta       Date:  1985-10-31       Impact factor: 3.786

5.  Lipid synthesis by rat brain microvessel endothelial cells in tissue culture.

Authors:  F S Roux; R Mokni; C C Hughes; P M Clouet; J M Lefauconnier; J M Bourre
Journal:  J Neuropathol Exp Neurol       Date:  1989-07       Impact factor: 3.685

6.  Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Authors:  G Hoffmann; K M Gibson; I K Brandt; P I Bader; R S Wappner; L Sweetman
Journal:  N Engl J Med       Date:  1986-06-19       Impact factor: 91.245

7.  Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

Authors:  M Irons; E R Elias; G S Tint; G Salen; R Frieden; T M Buie; M Ampola
Journal:  Am J Med Genet       Date:  1994-05-01

8.  Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authors:  G S Tint; M Irons; E R Elias; A K Batta; R Frieden; T S Chen; G Salen
Journal:  N Engl J Med       Date:  1994-01-13       Impact factor: 91.245

9.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Authors:  G F Hoffmann; C Charpentier; E Mayatepek; J Mancini; M Leichsenring; K M Gibson; P Divry; M Hrebicek; W Lehnert; K Sartor
Journal:  Pediatrics       Date:  1993-05       Impact factor: 7.124

10.  Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats.

Authors:  V Barbu; C Roux; D Lambert; R Dupuis; J Gardette; J C Maziere; C Maziere; E Elefant; J Polonovski
Journal:  J Nutr       Date:  1988-06       Impact factor: 4.798
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  10 in total

Review 1.  Detection of inborn errors of metabolism in the newborn.

Authors:  A Chakrapani; M A Cleary; J E Wraith
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2001-05       Impact factor: 5.747

2.  Cholesterol up-regulates neuronal G protein-gated inwardly rectifying potassium (GIRK) channel activity in the hippocampus.

Authors:  Anna N Bukiya; Serdar Durdagi; Sergei Noskov; Avia Rosenhouse-Dantsker
Journal:  J Biol Chem       Date:  2017-02-17       Impact factor: 5.157

3.  Desmosterolosis presenting with multiple congenital anomalies.

Authors:  Mersedeh Rohanizadegan; Stephanie Sacharow
Journal:  Eur J Med Genet       Date:  2017-11-23       Impact factor: 2.708

Review 4.  Applications of mass spectrometry in the study of inborn errors of metabolism.

Authors:  P T Clayton
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

5.  Desmosterol in brain is elevated because DHCR24 needs REST for Robust Expression but REST is poorly expressed.

Authors:  G S Tint; Luxing Pan; Quan Shang; Laura J Sharpe; Andrew J Brown; Man Li; Hongwei Yu
Journal:  Dev Neurosci       Date:  2014-05-24       Impact factor: 2.984

6.  A case report of prenatal exposure to rosuvastatin and telmisartan.

Authors:  Yannis Trakadis; Susan Blaser; Cecil D Hahn; Grace Yoon
Journal:  Paediatr Child Health       Date:  2009-09       Impact factor: 2.253

7.  Cholesterol-responsive metabolic proteins are required for larval development in Caenorhabditis elegans.

Authors:  Ichiro Kawasaki; Myung-Hwan Jeong; Yu-Joun Yun; Yun-Kyung Shin; Yhong-Hee Shim
Journal:  Mol Cells       Date:  2013-11-08       Impact factor: 5.034

8.  Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.

Authors:  Manuella Maria Silva Santos; Carolina Elsztein; Rafael Barros De Souza; Sérgio de Sá Leitão Paiva; Jaqueline Azevêdo Silva; Sergio Crovella; Marcos Antonio De Morais
Journal:  Curr Genet       Date:  2018-01-27       Impact factor: 3.886

9.  Block of the mevalonate pathway triggers oxidative and inflammatory molecular mechanisms modulated by exogenous isoprenoid compounds.

Authors:  Paola Maura Tricarico; Giulio Kleiner; Erica Valencic; Giuseppina Campisciano; Martina Girardelli; Sergio Crovella; Alessandra Knowles; Annalisa Marcuzzi
Journal:  Int J Mol Sci       Date:  2014-04-22       Impact factor: 5.923

10.  Sex-specific differences in the predictive value of cholesterol homeostasis markers and 10-year cardiovascular disease event rate in Framingham Offspring Study participants.

Authors:  Nirupa R Matthan; Lei Zhu; Michael Pencina; Ralph B D'Agostino; Ernst J Schaefer; Alice H Lichtenstein
Journal:  J Am Heart Assoc       Date:  2013-02-19       Impact factor: 5.501
  10 in total

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