Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase
about
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cellsSite specific screening for point mutations in ornithine transcarbamylase deficiency.Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutationImport and processing of human ornithine transcarbamoylase precursor by mitochondria from Saccharomyces cerevisiaeScanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavageBiosynthesis and metabolism of arginine in bacteriaOrnithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneIdentification of RNA splicing errors resulting in human ornithine transcarbamylase deficiencyImproved molecular diagnostics for ornithine transcarbamylase deficiencySubstrate-induced conformational change in a trimeric ornithine transcarbamoylaseCloning and characterization of the gene coding for cytoplasmic seryl-tRNA synthetase from Saccharomyces cerevisiae.Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateMolecular cloning of human ornithine aminotransferase mRNASex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.Two mitochondrial matrix proteases act sequentially in the processing of mammalian matrix enzymesMolecular genetics of the human X chromosome.Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophyDifferent structures in the amino-terminal domain of the ornithine transcarbamylase leader peptide are involved in mitochondrial import and carboxyl-terminal cleavage.Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutationsSurvey of amino-terminal proteolytic cleavage sites in mitochondrial precursor proteins: leader peptides cleaved by two matrix proteases share a three-amino acid motifA leader peptide is sufficient to direct mitochondrial import of a chimeric proteinThe first twelve amino acids (less than half of the pre-sequence) of an imported mitochondrial protein can direct mouse cytosolic dihydrofolate reductase into the yeast mitochondrial matrixMutations and polymorphisms in the human ornithine transcarbamylase gene.Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosome-linked gene with an atypical promoter.Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphismSequences from a prokaryotic genome or the mouse dihydrofolate reductase gene can restore the import of a truncated precursor protein into yeast mitochondria.Isolation and nucleotide sequence of a cDNA clone encoding rat mitochondrial malate dehydrogenase.DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locusMolecular cloning and nucleotide sequence analysis of mRNA for human kidney ornithine aminotransferase. An examination of ornithine aminotransferase isozymes between liver and kidney.Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.Catabolic ornithine transcarbamylase of Halobacterium halobium (salinarium): purification, characterization, sequence determination, and evolution.Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.Family studies in ornithine transcarbamylase deficiency.Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy
P2860
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P2860
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase
description
1984 nî lūn-bûn
@nan
1984 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Structure and expression of a ...... ial ornithine transcarbamylase
@ast
Structure and expression of a ...... ial ornithine transcarbamylase
@en
Structure and expression of a ...... ial ornithine transcarbamylase
@en-gb
Structure and expression of a ...... ial ornithine transcarbamylase
@nl
type
label
Structure and expression of a ...... ial ornithine transcarbamylase
@ast
Structure and expression of a ...... ial ornithine transcarbamylase
@en
Structure and expression of a ...... ial ornithine transcarbamylase
@en-gb
Structure and expression of a ...... ial ornithine transcarbamylase
@nl
prefLabel
Structure and expression of a ...... ial ornithine transcarbamylase
@ast
Structure and expression of a ...... ial ornithine transcarbamylase
@en
Structure and expression of a ...... ial ornithine transcarbamylase
@en-gb
Structure and expression of a ...... ial ornithine transcarbamylase
@nl
P2093
P356
P1433
P1476
Structure and expression of a ...... ial ornithine transcarbamylase
@en
P2093
F Kalousek
K R Williams
L E Rosenberg
R F Doolittle
W A Fenton
W Konigsberg
P304
P356
10.1126/SCIENCE.6372096
P407
P577
1984-06-08T00:00:00Z