The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.
about
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicingAntisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryFrequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansMutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase geneFunctional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Mosaic pattern of ornithine transcarbamylase expression in spfash mouse liver.Quantitative analysis of cell allocation during liver development, using the spf(ash)-heterozygous female mouse.Genome editing for inborn errors of metabolism: advancing towards the clinic.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.Perturbations of Drosophila alpha-actinin cause muscle paralysis, weakness, and atrophy but do not confer obvious nonmuscle phenotypes.A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice.Identification of a specific exon sequence that is a major determinant in the selection between a natural and a cryptic 5' splice site.Contrasting features of urea cycle disorders in human patients and knockout mouse models.Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.Defective ureagenesis in mice carrying a liver-specific disruption of hepatocyte nuclear factor 4alpha (HNF4alpha ). HNF4alpha regulates ornithine transcarbamylase in vivo.AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.Effect of 5' splice site mutations on splicing of the preceding intron.Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals.Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.Correction of ornithine transcarbamylase (OTC) deficiency in spf-ash mice by introduction of rat OTC gene.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.Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency.
P2860
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P2860
The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.
description
1989 nî lūn-bûn
@nan
1989 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հունիսին 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
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@ast
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@en
type
label
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@ast
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@en
prefLabel
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@ast
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@en
P2860
P356
P1476
The spfash mouse: a missense m ...... causes aberrant mRNA splicing.
@en
P2093
L E Rosenberg
P E Hodges
P2860
P304
P356
10.1073/PNAS.86.11.4142
P407
P577
1989-06-01T00:00:00Z