Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
Data up to Jan 2025
Total Citations Per Year
Abstract
References (44)
Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
1970 • 253,849 citations
Molecular Cloning: A Laboratory Manual
2001 • 133,517 citations
DNA sequencing with chain-terminating inhibitors
1977 • 69,181 citations
Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues
2013 • 47,043 citations
Molecular Cloning. A Laboratory Manual
1983 • 27,328 citations
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
1983 • 26,063 citations
Measurement of protein using bicinchoninic acid
1985 • 17,516 citations
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
1988 • 17,059 citations
“Western Blotting”: Electrophoretic transfer of proteins from sodium dodecyl sulfate-polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A
1981 • 8,657 citations
Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter
1984 • 6,459 citations
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
1984 • 4,899 citations
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
1988 • 4,259 citations
SPLICING OF MESSENGER RNA PRECURSORS
1986 • 1,233 citations
Hemoglobin: Molecular, Genetic and Clinical Aspects.
1986 • 1,005 citations
Splicing of Messenger RNA Precursors
1987 • 919 citations
Splicing of Messenger RNA Precursors
1984 • 874 citations
Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA
1986 • 389 citations
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.
1976 • 283 citations
Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns
1989 • 267 citations
The role of the mammalian branchpoint sequence in pre-mRNA splicing.
1988 • 215 citations
UACUAAC is the preferred branch site for mammalian mRNA splicing.
1989 • 180 citations
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
1988 • 146 citations
Macrocyclic intermediates in the biosynthesis of porphyrins
1976 • 139 citations
Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.
1983 • 138 citations
Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.
1986 • 107 citations
Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of Porphyria
1986 • 95 citations
Branch point selection in alternative splicing of tropomyosin pre-mRNAs
1989 • 89 citations
Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
1988 • 83 citations
Uroporphyrinogen decarboxylase. Purification, properties, and inhibition by polychlorinated biphenyl isomers.
1983 • 81 citations
Chicken triosephosphate isomerase complements an Escherichia coli deficiency.
1985 • 76 citations
Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase
1983 • 75 citations
Structure of the gene for human uroporphyrinogen decarboxylase
1987 • 67 citations
Investigations of rat liver uroporphyrinogen decarboxylase. Comparisons of porphyrinogens I and III as substrates and the inhibition by porphyrins
1981 • 64 citations
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda
1989 • 58 citations
Hepatoerythropoietic Porphyria: Clinical, Biochemical, and Enzymatic Studies in a Three-Generation Family Lineage
1987 • 58 citations
Purification of uroporphyrinogen decarboxylase from human erythrocytes. Immunochemical evidence for a single protein with decarboxylase activity in human erythrocytes and liver
1983 • 54 citations
In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?
1987 • 39 citations
Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda
1988 • 30 citations
Stereochemical and mechanistic studies on the decarboxylation of uroporphyrinogen III in haem biosynthesis
1979 • 30 citations
Uroporphyrinogen decarboxylase. A method for measuring enzyme activity.
1982 • 28 citations
In Vitro Splicing Pathways of Pre-mRNAs Containing Multiple Intervening Sequences
1987 • 24 citations
Assays of the heme biosynthetic enzymes. Preface.
1982 • 11 citations
Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives.
1988 • 9 citations
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda
1989 • 6 citations