Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple sy
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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 diMaple 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 diseaseEvidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine diseaseMaple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disOccurrence 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 populationMitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragmentBiochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes.Stability of targeted metabolite profiles of urine samples under different storage conditions.Enzymes involved in branched-chain amino acid metabolism in humans.Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.Maple syrup urine disease: clinical and biochemical significance of gene analysis.Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
P2860
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P2860
Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple sy
description
1987 nî lūn-bûn
@nan
1987 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Altered kinetic properties of ...... ed from patients with maple sy
@nl
type
label
Altered kinetic properties of ...... ed from patients with maple sy
@nl
prefLabel
Altered kinetic properties of ...... ed from patients with maple sy
@nl
P2093
P2860
P356
P1476
Altered kinetic properties of ...... with maple syrup urine disease
@en
P2093
P2860
P356
10.1172/JCI113064
P407
P577
1987-07-01T00:00:00Z