Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex
about
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the diMolecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patientsMaple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this diseaseOccurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutationsMolecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complexOccurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite populationPretranslational regulation of pyruvate dehydrogenase complex subunits in white adipose tissue during the suckling-weaning transition in the ratSecretory S complex of Bacillus subtilis: sequence analysis and identity to pyruvate dehydrogenase.Identification and analysis of the genes coding for the putative pyruvate dehydrogenase enzyme complex in Acholeplasma laidlawii.Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.Phenylbutyrate therapy for maple syrup urine disease.Dissecting lipid metabolism in meibomian glands of humans and mice: An integrative study reveals a network of metabolic reactions not duplicated in other tissuesE2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.Cloning and sequencing of a cluster of genes encoding branched-chain alpha-keto acid dehydrogenase from Streptomyces avermitilis and the production of a functional E1 [alpha beta] component in Escherichia coli.A second branched-chain alpha-keto acid dehydrogenase gene cluster (bkdFGH) from Streptomyces avermitilis: its relationship to avermectin biosynthesis and the construction of a bkdF mutant suitable for the production of novel antiparasitic avermectiEffects of insulin on the regulation of branched-chain alpha-keto acid dehydrogenase E1 alpha subunit gene expression.Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
P2860
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P2860
Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex
description
1989 nî lūn-bûn
@nan
1989 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի փետրվարին 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
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@ast
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@en
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@nl
type
label
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@ast
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@en
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@nl
prefLabel
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@ast
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@en
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@nl
P2093
P1476
Molecular phenotypes in cultur ...... eto acid dehydrogenase complex
@en
P2093
P304
P407
P577
1989-02-25T00:00:00Z