Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
about
N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognitionBiotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Novel roles of holocarboxylase synthetase in gene regulation and intermediary metabolismBiotin protein ligase from Saccharomyces cerevisiae. The N-terminal domain is required for complete activity.Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21Prenatal diagnosis and treatment of holocarboxylase synthetase deficiencyLysine biotinylation and methionine oxidation in the heat shock protein HSP60 synergize in the elimination of reactive oxygen species in human cell cultures.Cloning and expression of a cDNA encoding bovine lipoyltransferase.Nonenzymatic biotinylation of histone H2A.Transcriptome-wide N 6 -methyladenosine methylome profiling of porcine muscle and adipose tissues reveals a potential mechanism for transcriptional regulation and differential methylation patternMitochondrial disorders. A diagnostic challenge in clinical chemistry.Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.Biotin regulates the expression of holocarboxylase synthetase in the miR-539 pathway in HEK-293 cells.Cytosine methylation in miR-153 gene promoters increases the expression of holocarboxylase synthetase, thereby increasing the abundance of histone H4 biotinylation marks in HEK-293 human kidney cells.Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.Cloning and characterization of the Bacillus subtilis birA gene encoding a repressor of the biotin operon.Biotin requirements for DNA damage prevention.Selectivity in post-translational biotin addition to five human carboxylases.Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.Holocarboxylase synthetase interacts physically with nuclear receptor co-repressor, histone deacetylase 1 and a novel splicing variant of histone deacetylase 1 to repress repeatsManagement of a patient with holocarboxylase synthetase deficiencyThree promoters regulate the transcriptional activity of the human holocarboxylase synthetase gene.Distinct amino termini of two human HCS isoforms influence biotin acceptor substrate recognition.Holocarboxylase synthetase catalyzes biotinylation of heat shock protein 72, thereby inducing RANTES expression in HEK-293 cells.Prokaryotic BirA ligase biotinylates K4, K9, K18 and K23 in histone H3.Holocarboxylase synthetase interacts physically with euchromatic histone-lysine N-methyltransferase, linking histone biotinylation with methylation events.Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase DeficiencyFunction of a conserved sequence motif in biotin holoenzyme synthetases.A 96-well plate assay for high-throughput analysis of holocarboxylase synthetase activity.Human holocarboxylase synthetase with a start site at methionine-58 is the predominant nuclear variant of this protein and has catalytic activity.The polypeptide Syn67 interacts physically with human holocarboxylase synthetase, but is not a target for biotinylationEvidence for multiple forms of biotin holocarboxylase synthetase in pea (Pisum sativum) and in Arabidopsis thaliana: subcellular fractionation studies and isolation of a cDNA clone.Holocarboxylase synthetase synergizes with methyl CpG binding protein 2 and DNA methyltransferase 1 in the transcriptional repression of long-terminal repeats.Molecular characterization of a second copy of holocarboxylase synthetase gene (hcs2) in Arabidopsis thaliana.The role of holocarboxylase synthetase in genome stability is mediated partly by epigenomic synergies between methylation and biotinylation events.Biotin sensing at the molecular level.β-Keto and β-hydroxyphosphonate analogs of biotin-5'-AMP are inhibitors of holocarboxylase synthetase.Protein biotinylation in higher plants: characterization of biotin holocarboxylase synthetase activity from pea (Pisum sativum) leaves.Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein.Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
P2860
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P2860
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@ast
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en-gb
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@nl
type
label
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@ast
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en-gb
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@nl
prefLabel
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@ast
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en-gb
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@nl
P2093
P2860
P356
P1433
P1476
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
@en
P2093
A Iwamatsu
K Narisawa
Y Matsubara
P2860
P2888
P356
10.1038/NG1094-122
P407
P577
1994-10-01T00:00:00Z
P6179
1045717992