Authors:
Fitzky, BU
Moebius, FF
Asaoka, H
Waage-Baudet, H
Xu, LW
Xu, GR
Maeda, N
Kluckman, K
Hiller, S
Yu, HW
Batta, AK
Shefer, S
Chen, T
Salen, G
Sulik, K
Simoni, RD
Ness, GC
Glossmann, H
Patel, SB
Tint, GS
Citation: Bu. Fitzky et al., 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppressessterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome, J CLIN INV, 108(6), 2001, pp. 905-915
Authors:
Witsch-Baumgartner, M
Fitzky, BU
Ogorelkova, M
Kraft, HG
Moebius, FF
Glossmann, H
Seedorf, U
Gillessen-Kaesbach, G
Hoffmann, GF
Clayton, P
Kelley, RI
Utermann, G
Citation: M. Witsch-baumgartner et al., Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome, AM J HU GEN, 66(2), 2000, pp. 402-412
Authors:
Fitzky, BU
Glossmann, H
Utermann, G
Moebius, FF
Citation: Bu. Fitzky et al., Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism, CURR OP LIP, 10(2), 1999, pp. 123-131
Authors:
Bae, SH
Lee, JN
Fitzky, BU
Seong, JY
Paik, YK
Citation: Sh. Bae et al., Cholesterol biosynthesis from lanosterol - Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein, J BIOL CHEM, 274(21), 1999, pp. 14624-14631