PubRank

J P Kraus

Author PubWeight™ 82.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 1984 3.56
2 Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption. Proc Natl Acad Sci U S A 1982 2.81
3 Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein. EMBO J 2001 2.12
4 Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci U S A 1986 1.94
5 Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry 2001 1.85
6 Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Proc Natl Acad Sci U S A 1986 1.84
7 Rat cystathionine beta-synthase. Gene organization and alternative splicing. J Biol Chem 1992 1.67
8 Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences. Arch Biochem Biophys 1998 1.60
9 Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein. J Biol Chem 1994 1.57
10 The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet 1999 1.48
11 The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 1995 1.44
12 Cystathionine beta-synthase (human). Methods Enzymol 1987 1.42
13 Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest 1996 1.42
14 Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat 1992 1.39
15 Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase. Proc Natl Acad Sci U S A 1983 1.38
16 Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase. Proc Natl Acad Sci U S A 1986 1.36
17 Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. Proc Natl Acad Sci U S A 1987 1.35
18 A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites. Nucleic Acids Res 1985 1.35
19 Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet 1993 1.34
20 Pre-ornithine transcarbamylase. Properties of the cytoplasmic precursor of a mitochondrial matrix enzyme. J Biol Chem 1981 1.31
21 Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet 2001 1.29
22 Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase. J Biol Chem 1987 1.29
23 The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet 1988 1.18
24 Import of rat ornithine transcarbamylase precursor into mitochondria: two-step processing of the leader peptide. J Cell Biol 1987 1.15
25 Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver. J Biol Chem 1983 1.14
26 Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase. J Inorg Biochem 2000 1.12
27 Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Hum Mol Genet 1994 1.11
28 Workshop on inborn errors of metabolism. Prog Clin Biol Res 1982 1.09
29 RNA required for import of precursor proteins into mitochondria. Science 1984 1.08
30 Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase. Biochemistry 1999 1.07
31 Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms. Arch Biochem Biophys 1998 1.06
32 Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 2011 1.05
33 High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Hum Mutat 1995 1.03
34 Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization. Protein Expr Purif 1994 1.03
35 High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet 2000 1.02
36 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet 1995 1.02
37 Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. Am J Hum Genet 1989 1.01
38 Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Hum Mol Genet 1994 1.00
39 Molecular defect in a patient with pyridoxine-responsive homocystinuria. Hum Mol Genet 1993 0.99
40 Targeting of nuclear-encoded proteins to the mitochondrial matrix: implications for human genetic defects. Ann N Y Acad Sci 1986 0.99
41 Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. Am J Hum Genet 1984 0.99
42 Functional properties of the active core of human cystathionine beta-synthase crystals. J Biol Chem 2001 0.96
43 Delta-aminolevulinate increases heme saturation and yield of human cystathionine beta-synthase expressed in Escherichia coli. Arch Biochem Biophys 1995 0.95
44 Evidence for the evolutionary origin of human chromosome 21 from comparative gene mapping in the cow and mouse. Proc Natl Acad Sci U S A 1991 0.94
45 Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat 2001 0.94
46 Biosynthesis of human cystathionine beta-synthase in cultured fibroblasts. J Biol Chem 1984 0.93
47 Rat cystathionine beta-synthase: expression of four alternatively spliced isoforms in transfected cultured cells. Arch Biochem Biophys 1992 0.91
48 Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level. Hum Mol Genet 1995 0.91
49 Biosynthesis and proteolytic activation of cystathionine beta-synthase in rat liver. J Biol Chem 1984 0.89
50 An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Proc Natl Acad Sci U S A 1990 0.88
51 Cystathionine beta-synthase from human liver: improved purification scheme and additional characterization of the enzyme in crude and pure form. Arch Biochem Biophys 1983 0.88
52 Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli. Hum Mol Genet 1996 0.87
53 Genetic maps of mouse chromosome 17 including 12 new anonymous DNA loci and 25 anchor loci. Genomics 1991 0.86
54 Coordination chemistry of the heme in cystathionine beta-synthase: formation of iron(II)-isonitrile complexes. Biochem Biophys Res Commun 2001 0.85
55 Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 2002 0.84
56 Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat 1999 0.84
57 Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. J Inherit Metab Dis 1993 0.83
58 Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. Eur J Hum Genet 1997 0.83
59 Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. Hum Genet 1993 0.82
60 Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli. Mol Genet Metab 2000 0.82
61 Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Hum Mutat 2001 0.81
62 Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis 2003 0.81
63 Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J Inherit Metab Dis 1995 0.81
64 The rat MHC and cystathionine beta-synthase gene are syntenic on chromosome 20. Immunogenetics 1990 0.80
65 Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis 1999 0.80
66 Secondary structure of recombinant human cystathionine beta-synthase in aqueous solution: effect of ligand binding and proteolytic truncation. Arch Biochem Biophys 1997 0.78
67 Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method. Biotechniques 1990 0.78
68 Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes. Mamm Genome 1996 0.77
69 Assignment of the rat genes coding for medium-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and the beta subunit of propionyl-CoA carboxylase to chromosomes 2, 3, and 8, respectively. Cytogenet Cell Genet 1989 0.77
70 Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. J Inherit Metab Dis 1997 0.76
71 Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase. Aust N Z J Med 1996 0.76
72 Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. Hum Mutat 1998 0.76
73 Depletion of cultured human fibroblasts of pyridoxal 5'-phosphate: effect on activities of aspartate aminotransferase, alanine aminotransferase, and cystathionine beta-synthase. Arch Biochem Biophys 1980 0.75
74 Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency. J Pediatr 1991 0.75
75 [Molecular basis of organic acidemia--propionic acidemia]. Hum Cell 1990 0.75
76 Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. FEBS Lett 1998 0.75