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Article

Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.

The Journal of nutrition - 1 Jun 1995

Chuang D T, Davie J R, Wynn R M, Chuang J L, Koyata H, Cox R P

Abstract excerpt

Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex. This results in the accumulation of the branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA), which often produce severe neurological damage and mental retardation. The present studies focus on mutations in the E1 alpha gene of the...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Gene Expression Regulation, Enzymologic
Gene Transfer Techniques
Humans
Ketone Oxidoreductases
Maple Syrup Urine Disease
Multienzyme Complexes
Phenotype
Retroviridae

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7782943
DOI: 10.1093/jn/125.suppl_6.1766S

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7782943-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.PMID 7782943Read ↗

Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.Semantic proximity Read ↗

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.Semantic proximity Read ↗

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.Semantic proximity Read ↗

Molecular 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 complex.Semantic proximity Read ↗

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 disease.Semantic proximity Read ↗

Expression and assembly of a functional E1 component (alpha 2 beta 2) of mammalian branched-chain alpha-ketoacid dehydrogenase complex in Escherichia coli.Semantic proximity Read ↗

Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.Semantic proximity Read ↗

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.Semantic proximity Read ↗

Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.Semantic proximity Read ↗

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.Semantic proximity Read ↗

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.Semantic proximity Read ↗

Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.Semantic proximity Read ↗

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