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Items: 1 to 20 of 141

1.

Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.

Björkhem I, Hansson M.

Biochem Biophys Res Commun. 2010 May 21;396(1):46-9. doi: 10.1016/j.bbrc.2010.02.140. Review.

PMID:
20494109
2.

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase.

Båvner A, Shafaati M, Hansson M, Olin M, Shpitzen S, Meiner V, Leitersdorf E, Björkhem I.

J Lipid Res. 2010 Sep;51(9):2722-30. doi: 10.1194/jlr.M008326. Epub 2010 May 28.

3.

Cerebrotendinous xanthomatosis.

Björkhem I.

Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Review.

PMID:
23759795
4.

On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation.

Norlin M, von Bahr S, Bjorkhem I, Wikvall K.

J Lipid Res. 2003 Aug;44(8):1515-22. Epub 2003 Jun 1.

5.

Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.

Björkhem I, Leitersdorf E.

Trends Endocrinol Metab. 2000 Jul;11(5):180-3. Review.

PMID:
10856919
6.

Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX.

Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, Leitersdorf E, Tint GS, Erickson SK, Tanaka N, Shefer S.

J Lipid Res. 2001 Feb;42(2):291-300.

8.

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE.

Mol Genet Metab. 2015 Dec;116(4):298-304. doi: 10.1016/j.ymgme.2015.10.010. Epub 2015 Oct 26.

9.

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Varga VE, Katkó M, Harangi J, Balogh I, Kapás I, Madar L, Seres I, Molnár MJ, Paragh G, Kovács GG, Harangi M.

Orv Hetil. 2014 May 25;155(21):811-6. doi: 10.1556/OH.2014.29887. Review. Hungarian.

PMID:
24836315
10.

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S.

Clin Genet. 2002 Mar;61(3):185-91.

PMID:
12000359
11.

Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene.

Rosen H, Reshef A, Maeda N, Lippoldt A, Shpizen S, Triger L, Eggertsen G, Björkhem I, Leitersdorf E.

J Biol Chem. 1998 Jun 12;273(24):14805-12.

12.

On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis.

Panzenboeck U, Andersson U, Hansson M, Sattler W, Meaney S, Björkhem I.

J Lipid Res. 2007 May;48(5):1167-74. Epub 2007 Feb 26.

13.

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

Moghadasian MH.

Clin Invest Med. 2004 Feb;27(1):42-50. Review.

PMID:
15061585
14.

Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis.

Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, Leitersdorf E, Tint GS, Erickson SK, Tanaka N, Shefer S.

J Biol Chem. 2001 Sep 14;276(37):34579-85. Epub 2001 Jul 13.

15.

Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.

Mast N, Anderson KW, Lin JB, Li Y, Turko IV, Tatsuoka C, Bjorkhem I, Pikuleva IA.

J Biol Chem. 2017 Mar 24;292(12):4913-4924. doi: 10.1074/jbc.M116.774760. Epub 2017 Feb 11.

PMID:
28190002
17.

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Mignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A, Dotti MT.

J Inherit Metab Dis. 2016 Jan;39(1):75-83. doi: 10.1007/s10545-015-9873-1. Epub 2015 Jul 8.

PMID:
26153518
18.

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.

Schneider H, Lingesleben A, Vogel HP, Garuti R, Calandra S.

Orphanet J Rare Dis. 2010 Oct 6;5:27. doi: 10.1186/1750-1172-5-27.

19.

Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.

Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH.

Eur J Med Genet. 2012 Jan;55(1):71-4. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16.

PMID:
21958693
20.

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

Hansson M, Olin M, Floren CH, von Bahr S, van't Hooft F, Meaney S, Eggertsen G, Björkhem I.

J Intern Med. 2007 May;261(5):504-10.

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