Published in Am J Hum Genet on January 17, 2001
Structure and function of biotin-dependent carboxylases. Cell Mol Life Sci (2012) 1.46
Searching for gold beyond mitosis: Mining intracellular membrane traffic in Aspergillus nidulans. Cell Logist (2012) 0.99
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet (2013) 0.97
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis (2012) 0.94
An unanticipated architecture of the 750-kDa α6β6 holoenzyme of 3-methylcrotonyl-CoA carboxylase. Nature (2011) 0.94
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet (2004) 0.90
The diagnosis and management of patients with idiopathic osteolysis. Pediatr Rheumatol Online J (2011) 0.81
Structure and substrate selectivity of the 750-kDa α6β6 holoenzyme of geranyl-CoA carboxylase. Nat Commun (2015) 0.77
Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-κB signaling by targeting MAVS complex. Sci Rep (2016) 0.75
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep (2015) 0.75
Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res (1960) 34.68
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
An STS-based radiation hybrid map of the human genome. Genome Res (1997) 3.57
The molecular basis of alkaptonuria. Nat Genet (1996) 3.51
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. Proc Natl Acad Sci U S A (1986) 3.21
Effect of protein ingestion on splanchnic and leg metabolism in normal man and in patients with diabetes mellitus. J Clin Invest (1976) 2.27
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. Am J Hum Genet (1977) 2.04
Three-dimensional structure of the biotin carboxylase subunit of acetyl-CoA carboxylase. Biochemistry (1994) 1.90
Regulation and significance of amino acid metabolism in skeletal muscle. Fed Proc (1978) 1.70
Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet (1999) 1.67
Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli. J Biol Chem (1994) 1.54
Movement of the biotin carboxylase B-domain as a result of ATP binding. J Biol Chem (2000) 1.52
Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues. J Biol Chem (1995) 1.45
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet (1998) 1.43
Fungal metabolic model for human type I hereditary tyrosinaemia. Proc Natl Acad Sci U S A (1995) 1.31
Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups. Am J Hum Genet (1983) 1.27
Molecular cloning and characterization of the cDNA coding for the biotin-containing subunit of 3-methylcrotonoyl-CoA carboxylase: identification of the biotin carboxylase and biotin-carrier domains. Proc Natl Acad Sci U S A (1994) 1.23
Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue. J Biol Chem (1998) 1.19
Isolation of 3-methylcrotonyl-coenzyme A carboxylase from bovine kidney. Arch Biochem Biophys (1980) 1.17
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest (2001) 1.16
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat (1999) 1.07
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr (1998) 1.07
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol (1999) 1.04
Molecular characterization of the non-biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase. J Biol Chem (2000) 0.92
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis (1995) 0.85
Quality control in the discovery, reporting, and recording of genomic variation. Hum Mutat (2000) 0.83
Molecular and enzymatic methods for detection of genetic defects in distal pathways of branched-chain amino acid metabolism. Methods Enzymol (2000) 0.81
The Aspergillus PacC zinc finger transcription factor mediates regulation of both acid- and alkaline-expressed genes by ambient pH. EMBO J (1995) 3.54
The molecular basis of alkaptonuria. Nat Genet (1996) 3.51
Induction of antigen-specific cytotoxic T lymphocytes in humans by a malaria DNA vaccine. Science (1998) 3.46
Initiation of phage phi 29 DNA replication in vitro: formation of a covalent complex between the terminal protein, p3, and 5'-dAMP. Proc Natl Acad Sci U S A (1982) 2.93
Analysis of the complete nucleotide sequence of African swine fever virus. Virology (1995) 2.68
Activation of the Aspergillus PacC transcription factor in response to alkaline ambient pH requires proteolysis of the carboxy-terminal moiety. Genes Dev (1995) 2.68
Clinical manifestations of Plasmodium falciparum malaria experimentally induced by mosquito challenge. J Infect Dis (1997) 2.55
Organization of the murE-murG region of Escherichia coli: identification of the murD gene encoding the D-glutamic-acid-adding enzyme. J Bacteriol (1989) 2.35
The protein covalently linked to the 5' termini of the DNA of Bacillus subtilis phage phi 29 is involved in the initiation of DNA replication. Virology (1980) 2.29
Crystal structure of human homogentisate dioxygenase. Nat Struct Biol (2000) 2.16
Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant (2006) 2.00
Disposition of oxytetracycline in pigs after i.m. administration of two long-acting formulations. J Vet Pharmacol Ther (2001) 1.92
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy (2013) 1.74
pH regulation is a major determinant in expression of a fungal penicillin biosynthetic gene. EMBO J (1993) 1.73
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet (1999) 1.68
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59
Neuroprotection in relation to retinal ischemia and relevance to glaucoma. Surv Ophthalmol (1999) 1.58
Human milk: a source of more life than we imagine. Benef Microbes (2013) 1.58
[Facial angioma and the Sturge-Weber syndrome: a study of 121 cases]. Med Clin (Barc) (1993) 1.58
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. Neurology (1997) 1.57
Oka/Merck varicella vaccine in healthy children: final report of a 2-year efficacy study and 7-year follow-up studies. Vaccine (1991) 1.57
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet (2000) 1.55
Retreatment of children after surgery for acquired esotropia: reoperation versus botulinum injection. Br J Ophthalmol (1998) 1.55
[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children]. Rev Neurol (2001) 1.54
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology (2003) 1.54
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency. Mol Genet Metab (2013) 1.50
The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics (1997) 1.50
Inherited disorders of GABA metabolism. J Inherit Metab Dis (1993) 1.50
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics (1993) 1.49
Diversity of the Lactobacillus group in breast milk and vagina of healthy women and potential role in the colonization of the infant gut. J Appl Microbiol (2007) 1.48
Cloning and characterization of the isopenicillin N synthetase gene mediating the formation of the beta-lactam ring in Aspergillus nidulans. Gene (1987) 1.47
Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues. J Biol Chem (1995) 1.45
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet (1998) 1.43
[Transient bilateral hearing loss after spinal anesthesia]. Rev Esp Anestesiol Reanim (1996) 1.43
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis (2007) 1.41
Hospital personnel faced with organ xenotransplantation: an attitudinal survey in a hospital with a pre-clinical liver xenotransplantation program. Xenotransplantation (2006) 1.40
Pressure sore prevention in hospital patients: a clinical audit. J Wound Care (1999) 1.40
[Use of laboratories for healthy persons at the primary care level]. Aten Primaria (1993) 1.40
Three binding sites for the Aspergillus nidulans PacC zinc-finger transcription factor are necessary and sufficient for regulation by ambient pH of the isopenicillin N synthase gene promoter. J Biol Chem (1996) 1.40
[Migraine and MIDAS (MIDASELA) in Colombian hospital workers]. Rev Neurol (2003) 1.39
Antimicrobial potential of four Lactobacillus strains isolated from breast milk. J Appl Microbiol (2006) 1.38
Putative membrane components of signal transduction pathways for ambient pH regulation in Aspergillus and meiosis in saccharomyces are homologous. Mol Microbiol (1998) 1.35
Specific DNA recognition by the Aspergillus nidulans three zinc finger transcription factor PacC. J Mol Biol (1997) 1.33
Lactobacillus salivarius CECT 5713, a potential probiotic strain isolated from infant feces and breast milk of a mother-child pair. Int J Food Microbiol (2006) 1.32
Structure of protein-containing replicative intermediates of Bacillus subtilis phage phi 29 DNA. Virology (1982) 1.32
Fungal metabolic model for human type I hereditary tyrosinaemia. Proc Natl Acad Sci U S A (1995) 1.31
Inhibition of nuclear factor kappaB activation by a virus-encoded IkappaB-like protein. J Biol Chem (1998) 1.30
Pityriasis rubra pilaris and human immunodeficiency virus infection. Br J Dermatol (1995) 1.29
Assessment of the bacterial diversity of breast milk of healthy women by quantitative real-time PCR. Lett Appl Microbiol (2009) 1.29
gamma-Aminobutyric acid (GABA) metabolism in mammalian neural and nonneural tissues. Comp Biochem Physiol A Physiol (1995) 1.29
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29
Ambient pH signal transduction in Aspergillus: completion of gene characterization. Mol Microbiol (1999) 1.28
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet (2001) 1.28
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med (1986) 1.27
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. J Inherit Metab Dis (2007) 1.27
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis (2007) 1.25
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet (1999) 1.25
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem (1995) 1.24
Specificity determinants of proteolytic processing of Aspergillus PacC transcription factor are remote from the processing site, and processing occurs in yeast if pH signalling is bypassed. Mol Cell Biol (1999) 1.24
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. Pharmacol Biochem Behav (2004) 1.24
Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. J Pediatr (1997) 1.24
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology (2009) 1.23
Antibody assays suitable for assessing immune responses to live varicella vaccine. Vaccine (1991) 1.22
Carbon catabolite repression can account for the temporal pattern of expression of a penicillin biosynthetic gene in Aspergillus nidulans. Mol Microbiol (1992) 1.22
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet (1996) 1.21
Restriction endonuclease analysis of the DNA from varicella-zoster virus: stability of the DNA after passage in vitro. J Gen Virol (1981) 1.21
Short course of ofloxacin for treatment of multidrug-resistant typhoid. Clin Infect Dis (1995) 1.20
Molecular characterization of a fungal secondary metabolism promoter: transcription of the Aspergillus nidulans isopenicillin N synthetase gene is modulated by upstream negative elements. Mol Microbiol (1993) 1.20
Transcriptional analysis of multigene family 110 of African swine fever virus. J Virol (1992) 1.19
Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue. J Biol Chem (1998) 1.19
Factors involved in the initiation of phage phi 29 DNA replication in vitro: requirement of the gene 2 product for the formation of the protein p3-dAMP complex. Nucleic Acids Res (1983) 1.18
Short courses of ofloxacin for the treatment of enteric fever. Trans R Soc Trop Med Hyg (1997) 1.18
Altered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cycling. J Neurochem (2007) 1.17
Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways. J Lipid Res (1997) 1.17
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab (2004) 1.17
Two Lactobacillus strains, isolated from breast milk, differently modulate the immune response. J Appl Microbiol (2007) 1.17
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.14
On how a transcription factor can avoid its proteolytic activation in the absence of signal transduction. EMBO J (2000) 1.14
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol Genet Metab (2001) 1.14
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis (1992) 1.13
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res (1982) 1.12
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res (2000) 1.11
Generation of polyclonal antibodies against nisin: immunization strategies and immunoassay development. Appl Environ Microbiol (1996) 1.11
Study of resistance to anti-tuberculosis drugs in five districts of Equatorial Guinea: rates, risk factors, genotyping of gene mutations and molecular epidemiology. Int J Tuberc Lung Dis (2004) 1.11
Vancomycin-associated thrombocytopenia: case report and review of the literature. Am J Hematol (1999) 1.11
Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet (2000) 1.10