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E480K
site-directed mutagenesis, mutation of a C-terminal domain residue, about 50% of wild-type activity remain
R103C
site-directed mutagenesis, mutation of a FAD binding domain residue
R94H
site-directed mutagenesis, mutation of a FAD binding domain residue, about 20% of wild-type activity remain
T110A
site-directed mutagenesis, mutation and inactivation of the phosphorylation site results in 60% loss of activity compared to wild-type
T110E
site-directed mutagenesis, DHCR24 activity of the phosphomimetic T110E mutant is similar to wild-type activity
Y299F
site-directed mutagenesis, compared with wild-type DHCR24, the mutant Y299F stable cells contain reduced DHCR24 mRNA expression while having comparable DHCR24 protein levels, the mutant enzyme activity is reduced by 40% compared to the wild-type
Y300F
site-directed mutagenesis, compared with wild-type DHCR24, the mutant Y299F stable cells contain comparable DHCR24 mRNA expression while having reduced DHCR24 protein levels, the mutant enzyme activity is similar to the wild-type
Y321F
site-directed mutagenesis, the mutant enzyme activity is similar to the wild-type
Y507F
site-directed mutagenesis, the mutant enzyme activity is reduced by 60% compared to the wild-type
E191K
decreased activity
E191K
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natural mutant, 20% residual enzyme activity
E191K
site-directed mutagenesis, mutation of a FAD binding domain residue, 19.9% of wild-type activity remain
K306N
decreased activity
K306N
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natural mutant, 50% residual enzyme activity
K306N
site-directed mutagenesis, mutation of a C-terminal domain residue, 49.8% of wild-type activity remain
N294T
decreased activity
N294T
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natural mutant, 14.4% residual enzyme activity
N294T
site-directed mutagenesis, mutation of a C-terminal domain residue, 14.4% of wild-type activity remain
N294T/K306N
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natural mutant, 0.8% residual enzyme activity
N294T/K306N
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mutant shows diminished activity
Y471S
decreased activity
Y471S
a desmosterolosis mutant of DHCR24 that results in a complete loss of DHCR24 activity
Y471S
site-directed mutagenesis, mutation of a C-terminal domain residue, inactive mutant
additional information
construction of a diminuto/dwarf1 (dim) T-DNA insertion mutant. The dim mutant plants, similarly to the dwarf5-2, show a dwarf phenotype due to the deficiency in brassinosteroids, caused by a block in the D24-sterol-D24-reductase activity. Compared to the wild-type, the dim plants show reduced levels of campesterol and sitosterol associated to an increase of 24-methylene cholesterol and isofucosterol, their respective metabolic precursors and substrates of DIM, complementation experiments with dwarf5-2, dim, and ste1-1
additional information
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construction of a diminuto/dwarf1 (dim) T-DNA insertion mutant. The dim mutant plants, similarly to the dwarf5-2, show a dwarf phenotype due to the deficiency in brassinosteroids, caused by a block in the D24-sterol-D24-reductase activity. Compared to the wild-type, the dim plants show reduced levels of campesterol and sitosterol associated to an increase of 24-methylene cholesterol and isofucosterol, their respective metabolic precursors and substrates of DIM, complementation experiments with dwarf5-2, dim, and ste1-1
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additional information
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DNA and amino acid sequence determination and analysis of natural desmosterolysis mutant gene containing mutations e.g. Y471S, N294T, K306N, and E191K on either 2 alleles, differing between different patients, phenotypes, overview
additional information
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silencing of DHCR24 and HCV by siRNA
additional information
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mutant is constructed bearing a deleted transmembrane (TM) domain. This mutant is localized to the cytoplasm
additional information
construction of a specific chimeric antibody 2-152a MAb
additional information
construction of a truncated DHCR24, DELTA23 DHCR24, lacking the secretory signal peptide
additional information
neuroblastoma N2A cells are infected with adenovirus expressing myc-tagged DHCR24 (Ad-DHCR24) or lacZ (Ad-lacZ, serving as a control) and subjected to endoplasmic reticulum-stress, induced with tunicamycin. Cells infected with Ad-DHCR24-myc are resistant to TM-induced apoptosis, and show weaker level of caspase-12 activity. The cells also exhibit lower levels of Bip and CHOP proteins than Ad-LacZ-infected cells. A stronger and rapid activation of PERK, and a prolonged activation of JNK and p38 are observed in Ad-LacZinfected cells. The generation of intracellular reactive oxygen species from endoplasmic reticulum stress is also diminished by the overexpression of DHCR24 and intracellular cholesterol level is elevated, accompanied by a well-organized formation of caveolae (cholesterol-rich microdomain) on the plasma membrane, and improved colocalization of caveolin-1 and insulin-like growth factor 1 receptor. DHCR24 can protect neuronal cells from apoptosis induced by endoplasmic reticulum stress
additional information
the DHCR24 gene is knocked down by siRNA, DHCR24 knockdown decreases DHCR24 activity almost completely in CHO-EV and CHO-DHCR24 Y471S compared with CHODHCR24 cells
additional information
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the DHCR24 gene is knocked down by siRNA, DHCR24 knockdown decreases DHCR24 activity almost completely in CHO-EV and CHO-DHCR24 Y471S compared with CHODHCR24 cells
additional information
vascular HO-1 and DHCR24 are knocked down by loading HO-1 and DHCR24 siRNA into the space between the collar and carotid artery at the time of collar implantation. Preincubation of human coronary artery endothelial cells with (A-I)rHDL before activation with tumor necrosis factor-alpha increases DHCR24 and HO-1 mRNA levels and inhibits cytokine-induced vascular cell adhesion molecule-1 and intercellular adhesion molecule-1 expression. (A-I)rHDL-mediated induction of HO-1 is reduced in human coronary artery endothelial cells transfected with DHCR24 siRNA. Transfection of human coronary artery endothelial cells with HO-1 siRNA and tin-protoporphyrin-IX treatment does not inhibit the (A-I)rHDL-mediated increase in DHCR24 expression. Inhibition of phosphatidylinositol 3-kinase/Akt reduces the (A-I)rHDL-mediated increase in HO-1, but not DHCR24 expression. The activation of phosphatidylinositol 3-kinase/Akt by (A-I)rHDL is decreased in human coronary artery endothelial cells that are transfected with DHCR24 siRNA
additional information
DHCR24 knockout mice, development of the epidermis, especially keratinization, is impaired, altered expression of filaggrin, loricrin, and involcrin, transepidermal water loss is markedly increased, impaired skin barrier function
additional information
construction of transgenic maize plants generated with double-stranded ZmDWF1 RNA, some mutants show a dwarfed phenotype varying in severity