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Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M.

Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Review.


Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ.

Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22.


Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis.

Zerenturk EJ, Sharpe LJ, Ikonen E, Brown AJ.

Prog Lipid Res. 2013 Oct;52(4):666-80. doi: 10.1016/j.plipres.2013.09.002. Epub 2013 Oct 2. Review.


Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

Andersson HC, Kratz L, Kelley R.

Am J Med Genet. 2002 Dec 15;113(4):315-9.


The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS.

Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11.


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

Tint GS, Pan L, Shang Q, Sharpe LJ, Brown AJ, Li M, Yu H.

Dev Neurosci. 2014;36(2):132-42. doi: 10.1159/000362363. Epub 2014 May 24.


DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis.

Mirza R, Hayasaka S, Takagishi Y, Kambe F, Ohmori S, Maki K, Yamamoto M, Murakami K, Kaji T, Zadworny D, Murata Y, Seo H.

J Invest Dermatol. 2006 Mar;126(3):638-47.


Homology modelling of human DHCR24 (seladin-1) and analysis of its binding properties through molecular docking and dynamics simulations.

Pedretti A, Bocci E, Maggi R, Vistoli G.

Steroids. 2008 Aug;73(7):708-19. doi: 10.1016/j.steroids.2008.02.007. Epub 2008 Feb 23.


Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF.

Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94.


Clinical phenotype of desmosterolosis.

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT.

Am J Med Genet. 1998 Jan 13;75(2):145-52.


Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice.

Mirza R, Qiao S, Murata Y, Seo H.

Am J Dermatopathol. 2009 Jul;31(5):446-52. doi: 10.1097/DAD.0b013e318196f10c.


Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.

Luu W, Zerenturk EJ, Kristiana I, Bucknall MP, Sharpe LJ, Brown AJ.

J Lipid Res. 2014 Mar;55(3):410-20. doi: 10.1194/jlr.M043257. Epub 2013 Dec 20.


[Seladin-1/DHCR24: a key protein of cell homeostasis and cholesterol biosynthesis].

Drzewińska J, Pułaski L, Soszyński M, Bartosz G.

Postepy Hig Med Dosw (Online). 2009 Jul 13;63:318-30. Review. Polish.


The membrane topological analysis of 3β-hydroxysteroid-Delta24 reductase (DHCR24) on endoplasmic reticulum.

Lu X, Li Y, Liu J, Cao X, Wang X, Wang D, Seo H, Gao B.

J Mol Endocrinol. 2012 Jan 25;48(1):1-9. doi: 10.1530/JME-11-0132. Print 2012 Feb.


Increased expression of aquaporin-3 in the epidermis of DHCR24 knockout mice.

Mirza R, Hayasaka S, Kambe F, Maki K, Kaji T, Murata Y, Seo H.

Br J Dermatol. 2008 Apr;158(4):679-84. doi: 10.1111/j.1365-2133.2007.08424.x. Epub 2008 Jan 30.


Studies on the cholesterol-free mouse: strong activation of LXR-regulated hepatic genes when replacing cholesterol with desmosterol.

Heverin M, Meaney S, Brafman A, Shafir M, Olin M, Shafaati M, von Bahr S, Larsson L, Lövgren-Sandblom A, Diczfalusy U, Parini P, Feinstein E, Björkhem I.

Arterioscler Thromb Vasc Biol. 2007 Oct;27(10):2191-7. Epub 2007 Aug 30.


Age-dependent increase in desmosterol restores DRM formation and membrane-related functions in cholesterol-free DHCR24-/- mice.

Kuehnle K, Ledesma MD, Kalvodova L, Smith AE, Crameri A, Skaanes-Brunner F, Thelen KM, Kulic L, Lütjohann D, Heppner FL, Nitsch RM, Mohajeri MH.

Neurochem Res. 2009 Jun;34(6):1167-82. doi: 10.1007/s11064-008-9893-4. Epub 2008 Dec 25. Retraction in: Kuehnle K. Neurochem Res. 2009 Aug;34(8):1522.


The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.

Luu W, Hart-Smith G, Sharpe LJ, Brown AJ.

J Lipid Res. 2015 Apr;56(4):888-97. doi: 10.1194/jlr.M056986. Epub 2015 Jan 31. Erratum in: J Lipid Res. 2015 May;56(5):1079.


The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1).

Zerenturk EJ, Kristiana I, Gill S, Brown AJ.

Biochim Biophys Acta. 2012 Sep;1821(9):1269-77. doi: 10.1016/j.bbalip.2011.11.009. Epub 2011 Dec 10.


E2012-induced cataract and its predictive biomarkers.

Nakano-Ito K, Fujikawa Y, Hihara T, Shinjo H, Kotani S, Suganuma A, Aoki T, Tsukidate K.

Toxicol Sci. 2014 Jan;137(1):249-58. doi: 10.1093/toxsci/kft224. Epub 2013 Oct 1.


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