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Results: 1-8 |
Results: 8
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppressessterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
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
Genetic defects in postsqualene cholesterol biosynthesis (vol 11, pg 106, 2000)
Authors: Moebius, FF Fitzky, BU Glossmann, H
Citation: Ff. Moebius et al., Genetic defects in postsqualene cholesterol biosynthesis (vol 11, pg 106, 2000), TRENDS ENDO, 11(4), 2000, pp. 150-150
Genetic defects in postsqualene cholesterol biosynthesis
Authors: Moebius, FF Fitzky, BU Glossmann, H
Citation: Ff. Moebius et al., Genetic defects in postsqualene cholesterol biosynthesis, TRENDS ENDO, 11(3), 2000, pp. 106-114
Expression of the purported sigma(1) (sigma(1)) receptor in the mammalian brain and its possible relevance in deficits induced by antagonism of the NMDA receptor complex as revealed using an antisense strategy
Authors: Kitaichi, K Chabot, JG Moebius, FF Flandorfer, A Glossmann, H Quirion, R
Citation: K. Kitaichi et al., Expression of the purported sigma(1) (sigma(1)) receptor in the mammalian brain and its possible relevance in deficits induced by antagonism of the NMDA receptor complex as revealed using an antisense strategy, J CHEM NEUR, 20(3-4), 2000, pp. 375-387
Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
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
Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome
Authors: Braverman, N Lin, P Moebius, FF Obie, C Moser, A Glossmann, H Wilcox, WR Rimoin, DL Smith, M Kratz, L Kelley, RI Valle, D
Citation: N. Braverman et al., Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome, NAT GENET, 22(3), 1999, pp. 291-294
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism
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
Histidine(77), glutamic acid(81), glutamic acid(123), threonine(126), asparagine(194), and tryptophan(197) of the human emopamil binding protein are required for in vivo sterol Delta 8-Delta 7 isomerization
Authors: Moebius, FF Soellner, KEM Fiechtner, B Huck, CW Bonn, G Glossmann, H
Citation: Ff. Moebius et al., Histidine(77), glutamic acid(81), glutamic acid(123), threonine(126), asparagine(194), and tryptophan(197) of the human emopamil binding protein are required for in vivo sterol Delta 8-Delta 7 isomerization, BIOCHEM, 38(3), 1999, pp. 1119-1127
Risultati: 1-8 |