Results 71 to 80 of about 226 (125)

Cholesterol and Dehydrocholesterols Analysis from Patients with the Smith-Lemli-Opitz Syndrome by Atmospheric Pressure Thermal Desorption Chemical Ionization Mass Spectrometry (APTDCI-MS).

, 2009
CORSO, GAETANO, PAGLIA, GIUSEPPE, Dello Russo A, Corso G., D'Apolito O., DELLO RUSSO, ANTONIO, d'APOLITO, OCEANIA, Paglia G.   +7 more
core  

Vitamin D levels in Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2017
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.   +4 more
europepmc   +1 more source

Localization of sterols and oxysterols in mouse brain reveals distinct spatial cholesterol metabolism. [PDF]

Proc Natl Acad Sci U S A, 2020
Yutuc E, Angelini R, Baumert M, Mast N, Pikuleva I, Newton J, Clench MR, Skibinski DOF, Howell OW, Wang Y, Griffiths WJ.   +10 more
europepmc   +1 more source

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. [PDF]

J Steroid Biochem Mol Biol, 2017
Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.   +14 more
europepmc   +1 more source

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.

J Steroid Biochem Mol Biol, 2021
Abdel-Khalik J, Hearn T, Dickson AL, Crick PJ, Yutuc E, Austin-Muttitt K, Bigger BW, Morris AA, Shackleton CH, Clayton PT, Iida T, Sircar R, Rohatgi R, Marschall HU, Sjövall J, Björkhem I, Mullins JGL, Griffiths WJ, Wang Y.   +18 more
europepmc   +1 more source

Studies on Cholestapolyenes. I. : Syntheses of Bicholestatriene A and 7-Dehydrocholesterol.

Pharmaceutical Bulletin, 1953
Arima, Ko, Hayatsu, Ryoichi
openaire   +3 more sources

Temperature-dependent vitamin D signaling regulates developmental trajectory associated with diapause in an annual killifish. [PDF]

Proc Natl Acad Sci U S A, 2018
Romney ALT, Davis EM, Corona MM, Wagner JT, Podrabsky JE.   +4 more
europepmc   +1 more source

Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. [PDF]

Molecules, 2018
Fliesler SJ, Xu L.
europepmc   +1 more source

Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. [PDF]

J Pediatr, 2014
Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD.   +6 more
europepmc   +1 more source

Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. [PDF]

Toxicol Appl Pharmacol, 2018
Genaro-Mattos TC, Tallman KA, Allen LB, Anderson A, Mirnics K, Korade Z, Porter NA.   +6 more
europepmc   +1 more source