A Novel Point Mutation in a 3' Splice Site of the NADH-Cytochrome b5 Reductase Gene Results in Immunologically Undetectable Enzyme and Impaired NADH-Dependent Ascorbate Regeneration in Cultured Fibroblasts of a Patient with Type 11 Hereditary Methemoglobinemia

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Not labeled

• Identifiers

  No identifiers available.

• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular Cloning: A Laboratory Manual

  2001cited by this paper
• An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.

  1994cited by this paper
• The specific subcellular localization of two isoforms of cytochrome b5 suggests novel targeting pathways.

  1993cited by this paper
• Messenger RNA degradation in eukaryotes.

  1993cited by this paper
• NADH‐cytochrome b 5 reductase and cytochrome b 5 isoforms as models for the study of post‐translational targeting to the endoplasmic reticulum

  1993cited by this paper
• Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).

  1992cited by this paper
• A single mRNA, transcribed from an alternative, erythroid-specific, promoter, codes for two non-myristylated forms of NADH-cytochrome b5 reductase

  1992cited by this paper
• Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase.

  1991cited by this paper
• Role of cysteine residues in human NADH-cytochrome b5 reductase studied by site-directed mutagenesis. Cys-273 and Cys-283 are located close to the NADH-binding site but are not catalytically essential.

  1991cited by this paper
• Vitamin C: newer insights into its biochemical functions.

  1991cited by this paper
• Congenital methemoglobinemia due to methemoglobin reductase deficiency in two unrelated American black families.

  1990cited by this paper
• Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns

  1989cited by this paper
• The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene.

  1989cited by this paper
• A linkage and physical map of chromosome 22, and some applications to gene mapping.

  1988cited by this paper
• Purified cytochrome b561 catalyzes transmembrane electron transfer for dopamine beta-hydroxylase and peptidyl glycine alpha-amidating monooxygenase activities in reconstituted systems.

  1987cited by this paper
• Concentration of NADH-cytochrome b5 reductase in erythrocytes of normal and methemoglobinemic individuals measured with a quantitative radioimmunoblotting assay.

  1987cited by this paper
• Electron transfer across the chromaffin granule membrane. Use of EPR to demonstrate reduction of intravesicular ascorbate radical by the extravesicular mitochondrial NADH:ascorbate radical oxidoreductase.

  1986cited by this paper
• Distribution of the integral membrane protein NADH-cytochrome b5 reductase in rat liver cells, studied with a quantitative radioimmunoblotting assay.

  1986cited by this paper
• Subcellular distribution of OM cytochrome b-mediated NADH-semidehydroascorbate reductase activity in rat liver.

  1986cited by this paper
• Intron sequences involved in lariat formation during pre-mRNA splicing.

  1985cited by this paper
• Identification in pituitary tissue of a peptide alpha-amidation activity that acts on glycine-extended peptides and requires molecular oxygen, copper, and ascorbic acid.

  1983cited by this paper
• Two homologous cytochromes b5 in a single cell.

  1983cited by this paper
• Tissue, Subcellular, and Submitochondrial Distributions of Semidehydroascorbate Reductase: Possible Role of Semidehydroascorbate Reductase in Cofactor Regeneration

  1982cited by this paper
• Participation of a cytochrome b5-like hemoprotein of outer mitochondrial membrane (OM cytochrome b) in NADH-semidehydroascorbic acid reductase activity of rat liver.

  1981influential reference
• Direct spectrophotometric detection of ascorbate free radical formed by dopamine beta-monooxygenase and by ascorbate oxidase.

  1980cited by this paper
• Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation

  1980cited by this paper
• Assignment of the DIA1 locus to chromosome 22

  1977cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes.

  1968cited by this paper
• AN ELECTRON-TRANSPORT SYSTEM ASSOCIATED WITH THE OUTER MEMBRANE OF LIVER MITOCHONDRIA

  1967cited by this paper
• The enzymatic conversion of 3,4-dihydroxyphenylethylamine to norepinephrine.

  1960cited by this paper
• Protein measurement with the Folin phenol reagent.

  1951cited by this paper

• No citing papers are available for this paper.