Keywords: Next generation sequencing; mut; Methylmalonic aciduria; Methylmalonyl-CoA mutase; Vitamin B12;
مقالات ISI (ترجمه نشده)
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Keywords: 3HP/4HB; 3-hydroxypropionate/4-hydroxybutyrate cycle; ACC; acetyl-CoA/propionyl-CoA carboxylase; MCR; malonyl-CoA/succinyl-CoA reductase; MSR; Malonic semialdehyde reductase; HPCS; 3-hydroxypropionyl-CoA synthetase; HBCS; 4-hydroxybutyryl-CoA synthetase;
Keywords: LKT; Liver-kidney transplantation; MMA; Methylmalonic acidemia; MUT; Methylmalonyl-CoA mutase;
Keywords: ABC; ATP-binding cassette; AHBA; 3-amino-5-hydroxybenzoic acid; aminoDAHP; 3,4-dideoxy-4-amino-d-arabino-heptulosonic acid 7-phosphate; CDS; coding sequences; DCW; dry cell weight; DEGs; differentially expressed genes; GYM; glucose yeast malt; RP-HPLC-FD;
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria
Keywords: 2-MCA; 2-methylcitrate; AKG; α-ketoglutarate; BBB; blood-brain barrier; CSF; cerebrospinal fluid; CNS; central nervous system; cTIN; chronic tubulointerstitial nephritis; DIV; day in vitro; FGF; fibroblast growth factor; GalC; galactocerebroside; GDH; gl
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type
Keywords: AdoCbl; adenosylcobalamin; ATR; ATP:cob(I)alamin adenosyltransferase; DSF; differential scanning fluorimetry; HGMD; Human Gene Mutation Database; HTS; high-throughput screening; iPSCs; induced pluripotent stem cells; MMA; methylmalonic aciduria; MUT; meth
Vitamin B12 deficiency results in severe oxidative stress, leading to memory retention impairment in Caenorhabditis elegans
Keywords: Cat; catalase; DNPH; 2,4-dinitrophenylhydrazine; GPx; glutathione peroxidase; GSH; reduced glutathione; GSSG; oxidized glutathione; Hcy; homocysteine; HPLC; high-performance liquid chromatography; iGluR; ionotropic glutamate receptor; KPB; potassium phosp
Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans
Keywords: Cbl; cobalamin; MMA; methylmalonic acid; MeCbl; methylcobalamin; AdoCbl; adenosylcobalamin; MTR; methionine synthase; MCM; methylmalonyl-CoA mutase; PCC; propionyl-CoA carboxylase; ABC; ATP-binding cassette; TCA; trichloroacetic acid; NBF; nucleotide bind
Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency
Keywords: Vitamin B12; Folate; Methyl donor deficiency; Pathogenesis; Genetic animal models; B12; vitamin B12; SAM; S-adenosylmethionine; SAH; S-adenosylhomocysteine; HCY; homocysteine; KO; knock-out; ES cells; embryonic stem cells; OCM; one-carbon metabolism; NTD;
A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans
Keywords: AdoCbl; 5â²-deoxyadenosylcobalamin; Cbl; cobalamin; C. elegans; Caenorhabditis elegans; CH3-Cbl; methylcobalamin; CN-Cbl; cyanocobalamin; Hcy; homocysteine; IF; intrinsic factor; MCM; methylmalonyl-CoA mutase; MMA; methylmalonic acid; MMAA; methylmalonic
Resolution of carbon metabolism and sulfur-oxidation pathways of Metallosphaera cuprina Ar-4 via comparative proteomics
Keywords: ED pathway; Entner-Doudoroff pathway; EMP; Embden-Meyerhof-Parnas pathway; GA; glyceraldehyde; GAP; glyceraldehyde 3-phosphate; KDG; 2-keto-3-deoxygluconate; KD(P)G; 2-keto-3-deoxy-(6-phospho)-gluconate; PEP; phosphoenolpyruvate; GDH; glucose dehydr
Vitamin B12 deficiency in Caenorhabditis elegans results in loss of fertility, extended life cycle, and reduced lifespan
Keywords: Caenorhabditis elegans; Cobalamin; Methionine synthase; Methylmalonic acid; Methylmalonyl-CoA mutase; Vitamin B12Ado-B12, 5′-deoxyadenosylcobalamin; B12, vitamin B12; C. elegans, Caenorhabditis elegans; CH3-B12, methylcobalamin; Hcy, homocysteine; MCM, me
Treatment of a methylmalonyl-CoA mutase stopcodon mutation
Keywords: BAC; bacterial artificial chromosome; DMEM; Dulbecco's Modified Eagle's Medium; DMSO; dimethylsulfoxide; EGFP; enhanced green fluorescent protein; MCM; methylmalonyl-CoA mutase; MMA; methylmalonic aciduria; MUT; human methylmalonyl-CoA mutase gene; Mu
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism
Keywords: AdoCbl; 5â²-deoxyadenosylcobalamin; AUC; analytical ultracentrifugation; Cbl; cobalamin; CD; circular dichroism; CNCbl; cyanocobalamin; CN-PAGE; clear native polyacrylamide gel electrophoresis; DLS; dynamic light scattering; MBP; maltose binding protein;
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein
Keywords: Methylmalonyl-CoA mutase; Reactivation; Human MMAA; Enzyme inactivation; Methylmalonic acidemia;
Long-term outcome in methylmalonic aciduria: A series of 30 French patients
Keywords: Methylmalonic aciduria; Methylmalonyl-CoA mutase; Kidney failure; Basal ganglia
Sleeping beauty mutase (sbm) is expressed and interacts with ygfd in Escherichia coli
Keywords: YgfD; Sbm; Methylmalonyl-CoA mutase; Cobalamin; Vitamin B12
Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain
Keywords: methylmalonic aciduria; propionic aciduria; MCM; MUT; PCCA; developing brain; AdoCbl5; deoxyadenosylcobalamin; BCAA; branched chain amino acids; DEPC; diethylpyrocarbonate; GFAP; glial fibrillary acidic protein; HRP; horse radish peroxidase; ISH; in situ
Enzyme mechanisms from molecular modeling and isotope effects
Keywords: Isotope effects; Molecular modeling; Chloroacid dehalogenase; Methylmalonyl-CoA mutase; Trihydroxynaphthalene reductase;
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut− methylmalonic aciduria: Identification of seven novel mutations
Keywords: Methylmalonic acid; Methylmalonyl-CoA mutase; MUT; Organic aciduria
Characterization of selected genes upregulated in non-tuberculous European wild boar as possible correlates of resistance to Mycobacterium bovis infection
Keywords: Mycobacterium bovis; Mycobacteria; Tuberculosis; Resistance; Complement component; C3; Methylmalonyl-CoA mutase; MUT
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
Keywords: Propionate metabolism; Methylmalonic acidemia; Methylmalonyl-CoA epimerase; Methylmalonyl-CoA mutase; Cobalamin; C. elegans; Methylmalonyl-CoA racemase; Mass spectrometry; RNA interference; Bioinformatics
Mutation analysis of the MCM gene in Korean patients with MMA
Keywords: Methylmalonic acidemia; Methylmalonyl-CoA mutase; Mutation; Korean;
Genetic and genomic systems to study methylmalonic acidemia
Keywords: Methylmalonic acidemia; Cobalamin deficiency; Methylmalonyl-CoA mutase; MMAA; MMAB; Caenorhabditis elegans; Mouse models; Molecular genetics; Genomics;