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A1008P
the mutation is associated with familial glucocorticoid deficiency
A533V
the mutation is associated with familial glucocorticoid deficiency
A553V
the mutation is associated with familial glucocorticoid deficiency
D277Y
the mutation is associated with left ventricular noncompaction
G664R
the mutation is associated with familial glucocorticoid deficiency
G678A
the mutation is associated with familial glucocorticoid deficiency
G678R
the mutation is associated with familial glucocorticoid deficiency
G862D
the mutation is associated with familial glucocorticoid deficiency
H365P
the mutation is associated with familial glucocorticoid deficiency
L977P
the mutation is associated with familial glucocorticoid deficiency
N1009K
the mutation is associated with familial glucocorticoid deficiency
P437L
the mutation is associated with familial glucocorticoid deficiency
T357A
the mutation is associated with familial glucocorticoid deficiency
Y201K
the mutation is associated with familial glucocorticoid deficiency
Y388S
the mutation is associated with familial glucocorticoid deficiency
E155W
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dIII domain, displays similar catalytic properties as wild type, introduced tryptophan fluorescence is sensitive to the redox state of the bound nucleotide
F215S
the mutant shows 31% of wild type activity
F215S
the mutation is associated with familial glucocorticoid deficiency
G200S
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the mutation is associated with familial glucocorticoid deficiency
G200S
the mutation is associated with combined mineralocorticoid and glucocorticoid deficiency
S193N
the mutation is associated with familial glucocorticoid deficiency
S193N
the mutation is associated with FGD
Y235F
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mutant domain I/wild-type domain III mixtures catalyse acetylpyridine adenine dinucleotide reduction with similar rates as wild-type domain I/wild-type domain III mixtures
Y235F
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mutation resides in the soluble NAD(H)-binding peripheral membrane subunit, i.e. domain I, reconstitution of depleted membranes with mutant domain I gives 44% of activity that is obtained with wild-type domain I reconstituted membranes
Y235N
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mutation resides in the soluble NAD(H)-binding peripheral membrane subunit, i.e. domain I, reconstitution of depleted membranes with mutant domain I gives 18% of activity that is obtained with wild-type domain I reconstituted membranes
Y235N
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mutant domain I/wild-type domain III mixtures catalyse acetylpyridine adenine dinucleotide reduction with similar rates as wild-type domain I/wild-type domain III mixtures
additional information
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enzyme deficient mutants created by insertions at condon 474, 128, and 285 of ptnA
additional information
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enzyme overexpression reduces the production of inflammatory cytokines and the activation of mitogen-activated protein kinase signaling pathways in response to lipopolysaccharides. After 8 h, RAW264.7/NNT cells secrete significantly lower amounts of interleukin 6, TNF-alpha, and IL-1beta when compared to cells expressing empty vector. NNT overexpression impairs intracellular bacteria clearance. Wild-type C57BL/6J and C57BL/6J-NNT mice differed in inflammatory response within lung tissue
additional information
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overexpression and knockdown of the enzyme in carcinoma cells, phenotypes, overview
additional information
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enzyme overexpression reduces the production of inflammatory cytokines and the activation of mitogen-activated protein kinase signaling pathways in response to lipopolysaccharides. After 8 h, RAW264.7/NNT cells secrete significantly lower amounts of interleukin 6, TNF-alpha, and IL-1beta when compared to cells expressing empty vector. NNT overexpression impairs intracellular bacteria clearance. Wild-type C57BL/6J and C57BL/6J-NNT mice differed in inflammatory response within lung tissue
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additional information
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overexpression and knockdown of the enzyme in carcinoma cells, phenotypes, overview
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additional information
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enzyme overexpression reduces the production of inflammatory cytokines and the activation of mitogen-activated protein kinase signaling pathways in response to lipopolysaccharides. After 8 h, RAW264.7/NNT cells secrete significantly lower amounts of interleukin 6, TNF-alpha, and IL-1beta when compared to cells expressing empty vector. NNT overexpression impairs intracellular bacteria clearance. Wild-type C57BL/6J and C57BL/6J-NNT mice differed in inflammatory response within lung tissue
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additional information
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siRNA silencing or knockdown of NNT