Published in Mol Genet Metab on July 14, 2006
Interspecies systems biology uncovers metabolites affecting C. elegans gene expression and life history traits. Cell (2014) 1.73
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. Expert Rev Mol Med (2010) 1.08
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet (2007) 1.01
Caenorhabditis elegans battling starvation stress: low levels of ethanol prolong lifespan in L1 larvae. PLoS One (2012) 0.95
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. BMC Med Genet (2007) 0.91
Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1. Biochem J (2012) 0.89
LC-MS proteomics analysis of the insulin/IGF-1-deficient Caenorhabditis elegans daf-2(e1370) mutant reveals extensive restructuring of intermediary metabolism. J Proteome Res (2014) 0.85
Vitamin B12 deficiency in Caenorhabditis elegans results in loss of fertility, extended life cycle, and reduced lifespan. FEBS Open Bio (2013) 0.83
Biochemistry, function, and deficiency of vitamin B12 in Caenorhabditis elegans. Exp Biol Med (Maywood) (2016) 0.76
A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans. FEBS Open Bio (2014) 0.76
Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z. Metabolites (2013) 0.75
Protein measurement with the Folin phenol reagent. J Biol Chem (1951) 1743.91
The genetics of Caenorhabditis elegans. Genetics (1974) 102.14
Ingestion of bacterially expressed dsRNAs can produce specific and potent genetic interference in Caenorhabditis elegans. Gene (2001) 11.09
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24
The natural history of the inherited methylmalonic acidemias. N Engl J Med (1983) 2.12
Mitochondrial expression and function of GAS-1 in Caenorhabditis elegans. J Biol Chem (2001) 1.78
Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism (1993) 1.62
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet (1976) 1.52
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A (2002) 1.51
MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. J Biol Chem (2004) 1.43
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr (1994) 1.39
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat (2006) 1.35
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet (2002) 1.34
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem (2004) 1.30
Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis (2005) 1.27
Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. J Biol Chem (2003) 1.23
Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis (1995) 1.22
Propionate metabolism in Saccharomyces cerevisiae: implications for the metabolon hypothesis. Microbiology (1994) 1.22
Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. J Biol Chem (2001) 1.18
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J Biol Chem (2003) 1.15
Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria. Pediatr Res (1972) 1.08
L-methylmalonyl-CoA mutase from human placenta. Methods Enzymol (1988) 1.05
Inhibition of cobalamin-dependent enzymes by cobalamin analogues in rats. J Clin Invest (1991) 1.03
Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab (2005) 1.02
Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man? J Clin Invest (1983) 0.97
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. Hum Mol Genet (1997) 0.95
Anaerobiosis in the nematode Caenorhabditis elegans. Comp Biochem Physiol B Biochem Mol Biol (1999) 0.94
Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae. Biochem Med Metab Biol (1993) 0.92
Functional analysis of the methylmalonyl-CoA epimerase from Caenorhabditis elegans. FEBS J (2005) 0.92
Coenzyme A metabolism in vitamin B-12-deficient rats. J Nutr (1990) 0.86
Purification and characterization of methylmalonyl-CoA mutase from Ascaris lumbricoides. Comp Biochem Physiol B (1984) 0.85
A simple, rapid method for prenatal detection of defects in propionate metabolism. Clin Genet (1976) 0.85
Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors. Hum Gene Ther (2001) 0.83
Hot L1s account for the bulk of retrotransposition in the human population. Proc Natl Acad Sci U S A (2003) 6.16
High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes. Genome Res (2010) 5.38
L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells. Nat Struct Mol Biol (2006) 4.80
Retrotransposons revisited: the restraint and rehabilitation of parasites. Cell (2008) 4.19
Mobile elements and mammalian genome evolution. Curr Opin Genet Dev (2003) 3.68
Active human retrotransposons: variation and disease. Curr Opin Genet Dev (2012) 3.60
High incidence of cetuximab-related infusion reactions in Tennessee and North Carolina and the association with atopic history. J Clin Oncol (2007) 2.99
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Homocysteine and the risk of ischemic stroke in a triethnic cohort: the NOrthern MAnhattan Study. Stroke (2004) 2.76
L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism. Genes Dev (2009) 2.68
SVA elements are nonautonomous retrotransposons that cause disease in humans. Am J Hum Genet (2003) 2.55
A mouse model of human L1 retrotransposition. Nat Genet (2002) 2.39
Extensive somatic L1 retrotransposition in colorectal tumors. Genome Res (2012) 2.29
Total correction of hemophilia A mice with canine FVIII using an AAV 8 serotype. Blood (2003) 2.21
Interaction of P-selectin and PSGL-1 generates microparticles that correct hemostasis in a mouse model of hemophilia A. Nat Med (2003) 2.18
Progress in understanding the biology of the human mutagen LINE-1. Hum Mutat (2007) 2.17
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans. Genome Res (2010) 1.94
LINE-1 ORF1 protein localizes in stress granules with other RNA-binding proteins, including components of RNA interference RNA-induced silencing complex. Mol Cell Biol (2007) 1.79
Pityriasis rosea: an important papulosquamous disorder. Int J Dermatol (2005) 1.76
L1 retrotransposition in nondividing and primary human somatic cells. Proc Natl Acad Sci U S A (2006) 1.73
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. JIMD Rep (2012) 1.69
Evidence consistent with human L1 retrotransposition in maternal meiosis I. Am J Hum Genet (2002) 1.56
A potential role for the nucleolus in L1 retrotransposition. Hum Mol Genet (2004) 1.53
Management of significant venous discrepancy with microvascular venous coupler. J Reconstr Microsurg (2003) 1.52
An important role for RUNX3 in human L1 transcription and retrotransposition. Nucleic Acids Res (2003) 1.51
Therapeutic Treg expansion in mice by TNFRSF25 prevents allergic lung inflammation. J Clin Invest (2010) 1.50
L1 integration in a transgenic mouse model. Genome Res (2005) 1.50
Tracking an embryonic L1 retrotransposition event. Proc Natl Acad Sci U S A (2003) 1.49
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis (2011) 1.49
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia. Am J Physiol Regul Integr Comp Physiol (2004) 1.47
Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy. J Clin Invest (2015) 1.46
Retrotransposition of marked SVA elements by human L1s in cultured cells. Hum Mol Genet (2011) 1.45
Exon-trapping mediated by the human retrotransposon SVA. Genome Res (2009) 1.44
Biomarkers of vitamin B-12 status in NHANES: a roundtable summary. Am J Clin Nutr (2011) 1.43
Biomarkers of folate status in NHANES: a roundtable summary. Am J Clin Nutr (2011) 1.43
Long-term efficacy of adeno-associated virus serotypes 8 and 9 in hemophilia a dogs and mice. Hum Gene Ther (2006) 1.41
Lower inhibitor development in hemophilia A mice following administration of recombinant factor VIII-O-phospho-L-serine complex. J Biol Chem (2005) 1.39
Efficacy and safety of long-term prophylaxis in severe hemophilia A dogs following liver gene therapy using AAV vectors. Mol Ther (2010) 1.38
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A (2004) 1.32
Eradication of neutralizing antibodies to factor VIII in canine hemophilia A after liver gene therapy. Blood (2010) 1.32
Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity. Proc Natl Acad Sci U S A (2006) 1.32
Mapping the LINE1 ORF1 protein interactome reveals associated inhibitors of human retrotransposition. Nucleic Acids Res (2013) 1.31
Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J (2008) 1.31
Zinc, gravida, infection, and iron, but not vitamin B-12 or folate status, predict hemoglobin during pregnancy in Southern Ethiopia. J Nutr (2008) 1.29
IL-2 receptor signaling is essential for the development of Klrg1+ terminally differentiated T regulatory cells. J Immunol (2012) 1.21
SVA retrotransposons: Evolution and genetic instability. Semin Cancer Biol (2010) 1.20
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20
Neuroprotection by neuregulin-1 following focal stroke is associated with the attenuation of ischemia-induced pro-inflammatory and stress gene expression. Neurobiol Dis (2005) 1.19
Recombinant canine B-domain-deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model. Blood (2009) 1.18
Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1. Cell Rep (2013) 1.18
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
MOV10 RNA helicase is a potent inhibitor of retrotransposition in cells. PLoS Genet (2012) 1.17
Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. Mol Ther (2009) 1.16
Phenotypic correction of a mouse model of hemophilia A using AAV2 vectors encoding the heavy and light chains of FVIII. Blood (2003) 1.15
Many LINE1 elements contribute to the transcriptome of human somatic cells. Genome Biol (2009) 1.15
SnapShot: Vertebrate transposons. Cell (2008) 1.14
Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion. Hum Mol Genet (2010) 1.13
Allelic heterogeneity in LINE-1 retrotransposition activity. Am J Hum Genet (2003) 1.13
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics (2003) 1.09
Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction. Hum Gene Ther (2010) 1.07
A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids. Genome Res (2007) 1.07
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis (2011) 1.06
SPIRE: Systematic protein investigative research environment. J Proteomics (2011) 1.04
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther (2008) 1.04
Mobile elements in the human genome: implications for disease. Genome Med (2012) 1.02
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics (2013) 1.01
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet (2007) 1.01
More active human L1 retrotransposons produce longer insertions. Nucleic Acids Res (2004) 0.99
Routine imaging of asymptomatic melanoma patients with metastasis to sentinel lymph nodes rarely identifies systemic disease. Arch Surg (2004) 0.98
Dual vectors expressing murine factor VIII result in sustained correction of hemophilia A mice. Hum Gene Ther (2003) 0.98
Radiation-induced ulceration of the stomach secondary to hepatic embolization with radioactive yttrium microspheres in the treatment of metastatic colon cancer. J Gastroenterol Hepatol (2004) 0.96
Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. Hum Mutat (2011) 0.96
CurrMIT: a tool for managing medical school curricula. Acad Med (2003) 0.95
Sagittal and coronal dimensions of the ethmoid roof: a radioanatomic study. Am J Rhinol (2005) 0.94
Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles. Hum Mol Genet (2013) 0.93
Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia. Hum Gene Ther (2011) 0.93
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr (2010) 0.93
Contribution of polymorphisms in ankA, gltA, and groESL in defining genetic variants of Anaplasma phagocytophilum. J Clin Microbiol (2007) 0.92
The L1 retrotransposition assay: a retrospective and toolkit. Methods (2009) 0.92
Two independent retrotransposon insertions at the same site within the coding region of BTK. Hum Mutat (2005) 0.92
Detection of impaired cerebral autoregulation improves by increasing arterial blood pressure variability. J Cereb Blood Flow Metab (2012) 0.91
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. BMC Med Genet (2007) 0.91
The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains. Mol Cell Biol (2012) 0.89
Identification of the lateral position of a virtual object based on echoes by humans. Hear Res (2013) 0.89
Testosterone regulation of renal cystathionine beta-synthase: implications for sex-dependent differences in plasma homocysteine levels. Am J Physiol Renal Physiol (2007) 0.89
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. Proc Natl Acad Sci U S A (2013) 0.88
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans. Genet Med (2011) 0.88
Estimation of out-of-plane vertebra rotations on radiographic projections using CT data: a simulation study. Med Eng Phys (2002) 0.87
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol (2014) 0.86
Relationship between S-adenosylmethionine, S-adenosylhomocysteine, asymmetric dimethylarginine, and endothelial function in healthy human subjects during experimental hyper- and hypohomocysteinemia. Metabolism (2005) 0.85
Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia. J Struct Biol (2010) 0.85