Multigenic basis for maple syrup urine disease with emphasis on mutations in branched chain dihydrolipoyl acyltransferase

No abstract is available for this paper.

• Publication year

  1996

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/978-3-0348-8981-0_19
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Thiamine-responsive maple syrup urine disease

  2020cited by this paper
• Regulation of Branched-Chain Amino Acid Metabolism

  2012cited by this paper
• Scoliosis in Chickens A Model for the Inherited Form of Adolescent Scoliosis

  2007cited by this paper
• Influence of subunit transcript and protein levels on formation of a mitochondrial multienzyme complex

  1996cited by this paper
• Lipoic acid metabolism in Escherichia coli: the lplA and lipB genes define redundant pathways for ligation of lipoyl groups to apoprotein

  1995cited by this paper
• Retention of CD44 introns in bladder cancer: Understanding the alternative splicing of pre‐mRNA opens new insights into the pathogenesis of human cancers

  1995cited by this paper
• Can Hsp70 proteins act as force-generating motors?

  1995cited by this paper
• Mitochondrial molecular chaperones: their role in protein translocation.

  1994cited by this paper
• Protein import into mitochondria: the requirement for external ATP is precursor-specific whereas intramitochondrial ATP is universally needed for translocation into the matrix.

  1994cited by this paper
• Heat shock proteins and molecular chaperones: mediators of protein conformation and turnover in the cell.

  1994cited by this paper
• The role of Hsp70 in conferring unidirectionality on protein translocation into mitochondria.

  1994cited by this paper
• Purification and characterization of lipoyl-AMP:N epsilon-lysine lipoyltransferase from bovine liver mitochondria.

  1994cited by this paper
• Introns determine the time of appearance of PCNA mRNA in 3T3 cells stimulated by growth factors.

  1994cited by this paper
• Heat-shock proteins as molecular chaperones.

  1994cited by this paper
• How ATP drives proteins across membranes.

  1994cited by this paper
• 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.

  1994cited by this paper
• Removal of Branched-Chain Amino Acids by Peritoneal Dialysis, Continuous Arteriovenous Hemofiltration, and Continuous Arteriovenous Hemodialysis in Rabbits: Implications for Maple Syrup Urine Disease Treatment

  1994cited by this paper
• Regulation of branched-chain amino acid catabolism.

  1994cited by this paper
• The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993.

  1993cited by this paper
• Occurrence 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 mutations.

  1993cited by this paper
• Is demyelination a feature of maple syrup urine disease?

  1993cited by this paper
• Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.

  1993influential reference
• The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements.

  1993cited by this paper
• Characterization of the promoter-regulatory region and structural organization of E1α gene (BCKDHA) of human branched-chain α-keto acid dehydrogenase complex

  1993cited by this paper
• Role of the major heat shock proteins as molecular chaperones.

  1993cited by this paper
• Association of individual hnRNP proteins and snRNPs with nascent transcripts

  1993cited by this paper
• Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

  1993cited by this paper
• Roles of molecular chaperones in protein targeting to mitochondria.

  1993cited by this paper
• hnRNP proteins and the biogenesis of mRNA.

  1993cited by this paper
• A dual role for mitochondrial heat shock protein 70 in membrane translocation of preproteins

  1993cited by this paper
• Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF

  1993cited by this paper
• The North American collaborative study of maternal phenylketonuria (PKU)

  1993cited by this paper
• Loss of mitochondrial hsp60 function: nonequivalent effects on matrix-targeted and intermembrane-targeted proteins

  1993cited by this paper
• Heat shock proteins: molecular chaperones of protein biogenesis

  1993cited by this paper
• Practical Methods to Estimate Whole Body Leucine Oxidation in Maple Syrup Urine Disease

  1993cited by this paper
• Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy

  1993cited by this paper
• Chaperonins GroEL and GroES promote assembly of heterotetramers (α2β2) of mammalian mitochondrial branched-chain α-keto acid decarboxylase in Escherichia coli

  1992cited by this paper
• Shuttling of pre-mRNA binding proteins between nucleus and cytoplasm

  1992cited by this paper
• Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets

  1992cited by this paper
• Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.

  1992cited by this paper
• Abnormal dendritic development in maple syrup urine disease.

  1992cited by this paper
• Translation of poly(A)-binding protein mRNA is regulated by growth conditions.

  1992cited by this paper
• Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene.

  1992cited by this paper
• Computed tomography in maple syrup urine disease.

  1992cited by this paper
• hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear localization and association with hnRNAs.

  1992cited by this paper
• Targeting proteins to mitochondria: a current overview.

  1992cited by this paper
• Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene.

  1992cited by this paper
• Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease.

  1992cited by this paper
• Identification of proteins associating with poly(A)-binding-protein mRNA.

  1992cited by this paper
• Characterization and molecular cloning of polypyrimidine tract-binding protein: a component of a complex necessary for pre-mRNA splicing.

  1991cited by this paper
• Senescent human fibroblasts have a post-transcriptional block in the expression of the proliferating cell nuclear antigen gene.

  1991cited by this paper
• Cerebral edema causing death in children with maple syrup urine disease.

  1991cited by this paper
• Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease.

  1991cited by this paper
• Immunology, biosynthesis and in vivo assembly of the branched-chain 2-oxoacid dehydrogenase complex from bovine kidney.

  1991cited by this paper
• Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1.

  1991cited by this paper
• Sequential action of mitochondrial chaperones in protein import into the matrix.

  1991cited by this paper
• Pregnancy in phenylketonuria: dietary treatment aimed at normalising maternal plasma phenylalanine concentration.

  1991cited by this paper
• Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase.

  1991cited by this paper
• Structural features in eukaryotic mRNAs that modulate the initiation of translation.

  1991cited by this paper
• Intellectual outcome in children with maple syrup urine disease.

  1991cited by this paper
• Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy.

  1991cited by this paper
• Maple syrup urine disease (branched chain ketoaciduria).

  1990cited by this paper
• Measurement of plasma and urine amino acids by high-performance liquid chromatography with electrochemical detection using phenylisothiocyanate derivatization.

  1990cited by this paper
• Structure-function relationships in dihydrolipoamide acyltransferases.

  1990cited by this paper
• A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

  1990cited by this paper
• Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

  1990cited by this paper
• Protein folding in mitochondria requires complex formation with hsp60 and ATP hydrolysis

  1989cited by this paper
• A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers‐Danlos syndrome type VII.

  1989cited by this paper
• Detection of autoantibodies to recombinant mitochondrial proteins in patients with primary biliary cirrhosis.

  1989cited by this paper
• The poly(A)-poly(A)-binding protein complex is a major determinant of mRNA stability in vitro

  1989cited by this paper
• A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

  1989cited by this paper
• The 2-oxo acid dehydrogenase complexes: recent advances.

  1989cited by this paper
• Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase.

  1989cited by this paper
• Molecular Studies of Mammalian Branched‐Chain α‐Keto Acid Dehydrogenase Complexes: Domain Structures, Expression, and Inborn Errors a

  1989cited by this paper
• Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

  1989cited by this paper
• Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child.

  1989cited by this paper
• Modem Nutrition in Health and Disease

  1989cited by this paper
• Import of proteins into mitochondria.

  1988cited by this paper
• Characterization and conservation of the inner E2 core domain structure of branched-chain alpha-keto acid dehydrogenase complex from bovine liver. Construction of a cDNA encoding the entire transacylase (E2b) precursor.

  1988cited by this paper
• A fundamental division in the Alu family of repeated sequences.

  1988cited by this paper
• Postnatal development of the actual and total activity of the branched-chain 2-oxo acid dehydrogenase complex in rat tissues.

  1987cited by this paper
• At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells.

  1987cited by this paper
• Purification and properties of the catalytic subunit of the branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney mitochondria.

  1987cited by this paper
• Maple syrup urine disease in Chinese.

  1986cited by this paper
• Oxidative decarboxylation of 4-methylthio-2-oxobutyrate by branched-chain 2-oxo acid dehydrogenase complex.

  1986cited by this paper
• Role of branched-chain 2-oxo acid dehydrogenase and pyruvate dehydrogenase in 2-oxobutyrate metabolism.

  1986cited by this paper
• Structure and function of nuclear and cytoplasmic ribonucleoprotein particles.

  1986cited by this paper
• A distinct variant of intermediate maple syrup urine disease

  1985cited by this paper
• Thiamine Response in Maple Syrup Urine Disease

  1985cited by this paper
• Physiological covalent regulation of rat liver branched-chain α-ketoacid dehydrogenase

  1985cited by this paper
• Characterization of a mitochondrial transport system for branched chain alpha-keto acids.

  1985cited by this paper
• So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient.

  1985cited by this paper
• Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

  1985cited by this paper
• Direct physical evidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate.

  1984cited by this paper
• Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney.

  1984cited by this paper
• Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

  1982cited by this paper
• Coordinated System for Comprehensive Newborn Metabolic Screening

  1982cited by this paper
• THE ROLE OF THIAMIN IN MAPLE SYRUP URINE DISEASE *

  1982cited by this paper
• 713 THIAMINE RESPONSIVE MAPLE SYRUP URINE DISEASE

  1981cited by this paper
• Stabilization of mammalian liver branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate.

  1980cited by this paper

• Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex

  1998cites this paper