Published in Mol Genet Metab on April 16, 2009
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis (2011) 1.49
Vitamin B12 transport from food to the body's cells--a sophisticated, multistep pathway. Nat Rev Gastroenterol Hepatol (2012) 1.48
Advances in the understanding of cobalamin assimilation and metabolism. Br J Haematol (2009) 1.29
Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis (2010) 1.28
A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins. J Biol Chem (2009) 1.27
Navigating the B(12) road: assimilation, delivery, and disorders of cobalamin. J Biol Chem (2013) 1.27
Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. Expert Rev Mol Med (2010) 1.08
Structural basis of multifunctionality in a vitamin B12-processing enzyme. J Biol Chem (2011) 1.08
Characterization of the PduS cobalamin reductase of Salmonella enterica and its role in the Pdu microcompartment. J Bacteriol (2010) 1.00
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. Mol Genet Metab (2010) 1.00
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. J Inherit Metab Dis (2010) 0.94
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Hum Mutat (2010) 0.89
Glutathione metabolism in cobalamin deficiency type C (cblC). J Inherit Metab Dis (2013) 0.88
Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein. J Biol Chem (2014) 0.88
Ethanol lowers glutathione in rat liver and brain and inhibits methionine synthase in a cobalamin-dependent manner. Alcohol Clin Exp Res (2010) 0.88
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. Biochimie (2013) 0.87
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. Mol Genet Metab (2011) 0.85
Characterization of functional domains of the cblD (MMADHC) gene product. J Inherit Metab Dis (2014) 0.84
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans. J Inherit Metab Dis (2015) 0.83
Access to organometallic arylcobaltcorrins through radical synthesis: 4-ethylphenylcobalamin, a potential "antivitamin B(12)". Angew Chem Int Ed Engl (2013) 0.83
Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency. Front Mol Biosci (2016) 0.83
The X-ray crystal structure of glutathionylcobalamin revealed. Inorg Chem (2010) 0.81
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene. Eur J Pediatr (2014) 0.81
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Dev Biol (2014) 0.81
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. JIMD Rep (2013) 0.80
Mechanistic Studies on the Reaction of Nitrocobalamin with Glutathione: Kinetic evidence for formation of an aquacobalamin intermediate. Eur J Inorg Chem (2013) 0.80
Biphasic modulation of NOS expression, protein and nitrite products by hydroxocobalamin underlies its protective effect in endotoxemic shock: downstream regulation of COX-2, IL-1β, TNF-α, IL-6, and HMGB1 expression. Mediators Inflamm (2013) 0.80
Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. J Biol Chem (2015) 0.80
C-terminal truncation of a bovine B(12) trafficking chaperone enhances the sensitivity of the glutathione-regulated thermostability. BMB Rep (2013) 0.78
Vitamin B(12) metabolism during pregnancy and in embryonic mouse models. Nutrients (2013) 0.78
Cobalamin coenzyme forms are not likely to be superior to cyano- and hydroxyl-cobalamin in prevention or treatment of cobalamin deficiency. Mol Nutr Food Res (2015) 0.77
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. J Biol Chem (2015) 0.77
Methylfolate Trap Promotes Bacterial Thymineless Death by Sulfa Drugs. PLoS Pathog (2016) 0.76
Neuregulin 1 Promotes Glutathione-Dependent Neuronal Cobalamin Metabolism by Stimulating Cysteine Uptake. Oxid Med Cell Longev (2015) 0.76
Vitamin B12 among Vegetarians: Status, Assessment and Supplementation. Nutrients (2016) 0.76
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis (2016) 0.75
Pulse radiolysis studies on the reaction of the reduced vitamin B₁₂ complex Cob(II)alamin with superoxide. Chembiochem (2013) 0.75
Unusual aerobic stabilization of Cob(I)alamin by a B12-trafficking protein allows chemoenzymatic synthesis of organocobalamins. J Am Chem Soc (2014) 0.75
The necessity for in vivo functional analysis in human medical genetics. Med Res Arch (2015) 0.75
Cell Type-Specific Modulation of Cobalamin Uptake by Bovine Serum. PLoS One (2016) 0.75
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. J Biol Chem (2017) 0.75
Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. J Immunol Methods (1983) 114.35
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24
Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects. Clin Chem (1994) 2.14
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun (1969) 1.82
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A (1975) 1.62
Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A (2008) 1.60
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med (2008) 1.46
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Science (1985) 1.41
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis (1997) 1.35
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem (2004) 1.30
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem (1989) 1.28
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochem Biophys Res Commun (1971) 1.28
Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin. Proc Natl Acad Sci U S A (1975) 1.16
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF). Am J Hum Genet (1986) 1.00
Accurate assessment and identification of naturally occurring cellular cobalamins. Clin Chem Lab Med (2008) 0.99
Endothelial cells from human umbilical vein secrete functional transcobalamin II. Am J Physiol (1989) 0.96
Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death. Am J Med Genet (1989) 0.87
Reaction of alkylcobalamins with thiols. Biochemistry (1987) 0.86
Determination of cobalamins in biological material. II. The cobalamins in human plasma and erythrocytes after desalting on nonpolar adsorbent material, and separation by one-dimensional thin-layer chromatography. Anal Biochem (1983) 0.84
Methyl transfer from methylcobalamin to thiols. A reinvestigation. Biochemistry (1985) 0.83
Heterologous high level expression, purification, and enzymological properties of recombinant rat cobalamin-dependent methionine synthase. J Biol Chem (1999) 0.83
Cobalamin and its binding protein in rat milk. Scand J Clin Lab Invest (1989) 0.82
Determination of cobalamins in biological material. I. Improvement in the unequal recovery of cobalamins by preincubation with cadmium acetate. Anal Biochem (1983) 0.78
Redox biochemistry of hydrogen sulfide. J Biol Chem (2010) 3.64
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med (2003) 2.88
Relative contributions of cystathionine beta-synthase and gamma-cystathionase to H2S biogenesis via alternative trans-sulfuration reactions. J Biol Chem (2009) 2.49
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat (2009) 2.34
Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program (2003) 2.30
H2S biogenesis by human cystathionine gamma-lyase leads to the novel sulfur metabolites lanthionine and homolanthionine and is responsive to the grade of hyperhomocysteinemia. J Biol Chem (2009) 2.28
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood (2007) 1.95
Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice. Circ Res (2004) 1.68
S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity. Proc Natl Acad Sci U S A (2006) 1.66
A functional transsulfuration pathway in the brain links to glutathione homeostasis. J Biol Chem (2006) 1.61
TDAG51 is induced by homocysteine, promotes detachment-mediated programmed cell death, and contributes to the cevelopment of atherosclerosis in hyperhomocysteinemia. J Biol Chem (2003) 1.61
Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A (2008) 1.60
The quantitative significance of the transsulfuration enzymes for H2S production in murine tissues. Antioxid Redox Signal (2011) 1.60
A RaDiCAL approach to gene discovery. J Med Genet (2011) 1.58
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Selective fluorescent probes for live-cell monitoring of sulphide. Nat Commun (2011) 1.51
Targeting of metallothionein by L-homocysteine: a novel mechanism for disruption of zinc and redox homeostasis. Arterioscler Thromb Vasc Biol (2006) 1.51
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
Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. Am J Clin Nutr (2004) 1.50
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia. Am J Physiol Regul Integr Comp Physiol (2004) 1.47
Myocardial injury after noncardiac surgery: a large, international, prospective cohort study establishing diagnostic criteria, characteristics, predictors, and 30-day outcomes. Anesthesiology (2014) 1.47
Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme. Biochemistry (2002) 1.46
Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med (2008) 1.46
Extracellular redox modulation by regulatory T cells. Nat Chem Biol (2009) 1.45
High turnover rates for hydrogen sulfide allow for rapid regulation of its tissue concentrations. Antioxid Redox Signal (2012) 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
Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet (2011) 1.41
Enzymology of H2S biogenesis, decay and signaling. Antioxid Redox Signal (2013) 1.39
Prognostic value of 1p, 19q, 9p, 10q, and EGFR-FISH analyses in recurrent oligodendrogliomas. J Neuropathol Exp Neurol (2004) 1.39
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms. J Neuropathol Exp Neurol (2002) 1.36
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat (2006) 1.35
Sodium ion pumps and hydrogen production in glutamate fermenting anaerobic bacteria. J Mol Microbiol Biotechnol (2005) 1.35
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet (2002) 1.34
Structural basis for substrate activation and regulation by cystathionine beta-synthase (CBS) domains in cystathionine {beta}-synthase. Proc Natl Acad Sci U S A (2010) 1.30
Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase. Biochemistry (2002) 1.29
PLP-dependent H(2)S biogenesis. Biochim Biophys Acta (2011) 1.29
Spectroscopic evidence for the formation of a four-coordinate Co2+ cobalamin species upon binding to the human ATP:cobalamin adenosyltransferase. J Am Chem Soc (2005) 1.29
A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins. J Biol Chem (2009) 1.27
Navigating the B(12) road: assimilation, delivery, and disorders of cobalamin. J Biol Chem (2013) 1.27
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism. J Biol Chem (2012) 1.26
Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry (2002) 1.24
Neuroprotective immunity: T cell-derived glutamate endows astrocytes with a neuroprotective phenotype. J Immunol (2008) 1.22
Modulation of the heme electronic structure and cystathionine beta-synthase activity by second coordination sphere ligands: The role of heme ligand switching in redox regulation. J Inorg Biochem (2009) 1.22
Adenosyltransferase tailors and delivers coenzyme B12. Nat Chem Biol (2008) 1.21
Plasma interleukin-6 adds prognostic information in pulmonary arterial hypertension. Eur Respir J (2013) 1.20
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20
Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria. J Biol Chem (2007) 1.19
A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria. Proc Natl Acad Sci U S A (2009) 1.19
Clinical utility of fluorescence in situ hybridization (FISH) in morphologically ambiguous gliomas with hybrid oligodendroglial/astrocytic features. J Neuropathol Exp Neurol (2003) 1.18
Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. J Biol Chem (2006) 1.18
Nitrated alpha-synuclein and microglial neuroregulatory activities. J Neuroimmune Pharmacol (2008) 1.15
Ion channel blockade attenuates aggregated alpha synuclein induction of microglial reactive oxygen species: relevance for the pathogenesis of Parkinson's disease. J Neurochem (2007) 1.15
Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase. J Biol Chem (2004) 1.15
Increased transsulfuration mediates longevity and dietary restriction in Drosophila. Proc Natl Acad Sci U S A (2011) 1.14
Properties of an unusual heme cofactor in PLP-dependent cystathionine beta-synthase. Nat Prod Rep (2007) 1.14
Exogenous thioredoxin prevents ethanol-induced oxidative damage and apoptosis in mouse liver. Hepatology (2009) 1.14
Ancillary FISH analysis for 1p and 19q status: preliminary observations in 287 gliomas and oligodendroglioma mimics. Front Biosci (2003) 1.13
Assembly and protection of the radical enzyme, methylmalonyl-CoA mutase, by its chaperone. Biochemistry (2006) 1.13
A novel role for vitamin B(12): Cobalamins are intracellular antioxidants in vitro. Free Radic Biol Med (2009) 1.13
Structure and kinetic analysis of H2S production by human mercaptopyruvate sulfurtransferase. J Biol Chem (2013) 1.13
Visualization of PLP-bound intermediates in hemeless variants of human cystathionine beta-synthase: evidence that lysine 119 is a general base. Arch Biochem Biophys (2004) 1.11
Vitamin B(12) and redox homeostasis: cob(II)alamin reacts with superoxide at rates approaching superoxide dismutase (SOD). J Am Chem Soc (2009) 1.11
Homocysteine and redox signaling. Antioxid Redox Signal (2005) 1.10
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab (2006) 1.10
Time line of redox events in aging postmitotic cells. Elife (2013) 1.10
Integrated stress response modulates cellular redox state via induction of cystathionine γ-lyase: cross-talk between integrated stress response and thiol metabolism. J Biol Chem (2012) 1.10
Homocysteine binds to human plasma fibronectin and inhibits its interaction with fibrin. Arterioscler Thromb Vasc Biol (2002) 1.09
Differential dependence on cysteine from transsulfuration versus transport during T cell activation. Antioxid Redox Signal (2010) 1.09
Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab (2010) 1.08
Structural basis of multifunctionality in a vitamin B12-processing enzyme. J Biol Chem (2011) 1.08
Redox remodeling as an immunoregulatory strategy. Biochemistry (2010) 1.08
Taurine supplementation prevents ethanol-induced decrease in serum adiponectin and reduces hepatic steatosis in rats. Hepatology (2009) 1.08
Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase. Biochemistry (2004) 1.06
Mirror "base-off" conformation of coenzyme B12 in human adenosyltransferase and its downstream target, methylmalonyl-CoA mutase. J Am Chem Soc (2005) 1.06
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06
Coupling of hydrogenic tunneling to active-site motion in the hydrogen radical transfer catalyzed by a coenzyme B12-dependent mutase. Proc Natl Acad Sci U S A (2007) 1.05
Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects. Physiol Genomics (2005) 1.05
Dynamics of carbon monoxide binding to cystathionine beta-synthase. J Biol Chem (2006) 1.05
Characterization of a succinyl-CoA radical-cob(II)alamin spin triplet intermediate in the reaction catalyzed by adenosylcobalamin-dependent methylmalonyl-CoA mutase. Biochemistry (2005) 1.05
Human cystathionine beta-synthase is a target for sumoylation. Biochemistry (2006) 1.05
Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med (2011) 1.04
Sulfur as a signaling nutrient through hydrogen sulfide. Annu Rev Nutr (2014) 1.04
Studies on the formation of glutathionylcobalamin: any free intracellular aquacobalamin is likely to be rapidly and irreversibly converted to glutathionylcobalamin. Inorg Chem (2004) 1.02
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer. Biochemistry (2007) 1.02
In vitro and in vivo interactions of homocysteine with human plasma transthyretin. J Biol Chem (2003) 1.02
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet (2002) 1.02
Redox regulation of homocysteine-dependent glutathione synthesis. Redox Rep (2003) 1.01
Molecular targeting of proteins by L-homocysteine: mechanistic implications for vascular disease. Antioxid Redox Signal (2007) 1.01
ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet (2013) 1.01
Regulatory T cells interfere with glutathione metabolism in dendritic cells and T cells. J Biol Chem (2010) 1.01
Tumor necrosis factor-alpha-induced targeted proteolysis of cystathionine beta-synthase modulates redox homeostasis. J Biol Chem (2003) 1.01
Computational insights into the mechanism of radical generation in B12-dependent methylmalonyl-CoA mutase. J Am Chem Soc (2006) 1.01
Sensitive measurement of serum 1α,25-dihydroxyvitamin D by liquid chromatography/tandem mass spectrometry after removing interference with immunoaffinity extraction. Rapid Commun Mass Spectrom (2011) 1.01
Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation. PLoS One (2008) 1.00
Redundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1. J Biol Chem (2003) 1.00