Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase
about
Functional analysis of 14 genes that constitute the purine catabolic pathway in Bacillus subtilis and evidence for a novel regulon controlled by the PucR transcription activatorMolecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagenEnzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregationMolecular etiology of primary hyperoxaluria type 1: new directions for treatmentChromosomal assignment of human phenol and bilirubin UDP-glucuronosyltransferase genes (UGT1A-subfamily)Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase.Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21.Mapping of RXRB to human chromosome 6p21.3.The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14.Primary hyperoxaluria.Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferaseSurgical management of stone disease in patients with primary hyperoxaluria.Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stonesFlecked-retina syndromes.Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.Primary hyperoxalurias: diagnosis and treatment.Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.Evolution of alanine:glyoxylate aminotransferase intracellular targeting: structural and functional analysis of the guinea pig gene.Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney diseasePurification of three aminotransferases from Hydrogenobacter thermophilus TK-6--novel types of alanine or glycine aminotransferase: enzymes and catalysis.Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargetiClinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.Folding Defects Leading to Primary Hyperoxaluria.Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.Primary hyperoxaluria in a compound heterozygote infant.Human regeneration protein/lothostathine genes map to chromosome 2p 12New nucleotide sequence data on the EMBL File ServerNew nucleotide sequence data on the EMBL File Server
P2860
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P2860
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase
description
1991 nî lūn-bûn
@nan
1991 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@ast
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@en
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@nl
type
label
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@ast
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@en
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@nl
prefLabel
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@ast
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@en
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@nl
P2093
P3181
P1433
P1476
Characterization and chromosom ...... ne:glyoxylate aminotransferase
@en
P2093
C Hamon-Benais
C J Danpure
P E Purdue
P3181
P356
10.1016/0888-7543(91)90481-S
P407
P577
1991-05-01T00:00:00Z