An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells
about
Site specific screening for point mutations in ornithine transcarbamylase deficiency.Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiencyTwo different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaImproved molecular diagnostics for ornithine transcarbamylase deficiencyKlf15 orchestrates circadian nitrogen homeostasis.Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.Thiol-independent action of mitochondrial thioredoxin to support the urea cycle of arginine biosynthesis in Schizosaccharomyces pombe.Augmentation of urea-synthetic capacity by inhibition of nitric oxide synthesis in butyrate-induced differentiated human hepatocytes.Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors.Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge.Neural-specific deletion of mitochondrial p32/C1qbp leads to leukoencephalopathy due to undifferentiated oligodendrocyte and axon degeneration.Cardiomyocyte-specific loss of mitochondrial p32/C1qbp causes cardiomyopathy and activates stress responses.
P2860
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P2860
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells
description
1989 nî lūn-bûn
@nan
1989 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@ast
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en-gb
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@nl
type
label
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@ast
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en-gb
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@nl
prefLabel
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@ast
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en-gb
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@nl
P2860
P356
P1476
An arginine to glutamine mutat ...... zymatic activity in Cos1 cells
@en
P2093
P2860
P304
P356
10.1172/JCI114360
P407
P577
1989-12-01T00:00:00Z