Results 191 to 200 of about 348,762 (206)

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation

Human Mutation, 2007
Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. Two highly prevalent SNPs, c.66A>G (p.Ile22Met) and c.524C>T (p.Ser175Leu), are found in the MTRR gene.
Carmen, Gherasim, David S, Rosenblatt, Ruma, Banerjee   +2 more
openaire   +2 more sources

Electron Transfer in Human Methionine Synthase Reductase Studied by Stopped-Flow Spectrophotometry

Biochemistry, 2003
Human methionine synthase reductase (MSR) is a key enzyme in folate and methionine metabolism as it reactivates the catalytically inert cob(II)alamin form of methionine synthase (MS). Electron transfer from MSR to the cob(II)alamin cofactor coupled with methyl transfer from S-adenosyl methionine returns MS to the active methylcob(III)alamin state.
Wolthers, Kirsten R., Scrutton, Nigel S.
openaire   +2 more sources

Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene

Gene, 1999
Methionine synthase reductase (EC 2.1.1.135) is a flavoprotein essential for maintenance of methionine synthase in an active state. We characterized the human gene for methionine synthase reductase (MTRR). The gene is approximately 34kb and comprises 15 exons, varying in size from 43 to 1213bp, and 14 introns whose sizes vary from 108bp to 5kb.
D, Leclerc, M, Odièvre, Q, Wu, A, Wilson, J J, Huizenga, R, Rozen, S W, Scherer, R A, Gravel   +7 more
openaire   +2 more sources

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association

Molecular Genetics and Metabolism, 2005
Methionine synthase reductase (MTRR) regenerates methylated cobalamin levels from the oxidised cob(II)alamin form and in so doing plays a crucial role in maintaining the active state of methionine synthase (MTR). MTR is an essential enzyme catalyzing the conversion of homocysteine to methionine.
Valerie B, O'Leary, James L, Mills, Faith, Pangilinan, Peadar N, Kirke, Christopher, Cox, Mary, Conley, Andrea, Weiler, Kun, Peng, Barry, Shane, John M, Scott, Anne, Parle-McDermott, Anne M, Molloy, Lawrence C, Brody   +12 more
openaire   +2 more sources

Severe Methylenetetrahydrofolate Reductase Deficiency, Methionine Synthase, and Nitrous Oxide — A Cautionary Tale

New England Journal of Medicine, 2003
In this issue of the Journal, Selzer et al. (pages 45–50) describe the unexpected neurologic deterioration and death of an infant boy who had been anesthetized twice within a short time with the wi...
Richard W, Erbe, Robbert J, Salis
exaly   +3 more sources

[Associations of polymorphisms of methionine synthase A2756G and methionine synthase reductase G66A with the risks of coronary artery disease: a meta-analysis].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine], 2011
To evaluate the associations between polymorphisms of methionine synthase(MTR) A2756G and methionine synthase reductase(MTRR) G66A and risk of coronary artery disease.Literatures in Medline reporting the relationship between polymorphisms of MTR A2756G and MTRR G66A and risk of coronary artery disease from January 1990 to May 2010 were searched.
Ya-jie, Li, Yong-wang, Li, Xu, Ding, Hong-tao, Zhao, Ying, Li   +4 more
openaire   +1 more source

P.501 Association of genetic polymorphisms of methionine synthase and methionine synthase reductase with schizophrenia and its symptoms

European Neuropsychopharmacology, 2019
T. Zhilyaeva, I. Semennov, A. Sergeeva, A. Blagonravova, G. Mazo   +4 more
openaire   +1 more source

Methionine Synthase (MTR) 2756 (a → G) Polymorphism, Double Heterozygosity Methionine Synthase 2756 AG/Methionine Synthase Reductase (MTRR) 66 AG, and Elevated Homocysteinemia Are Three Risk Factors for Having a Child With Down Syndrome

American Journal of Medical Genetics, Part A, 2003
Antonino Romano, Guido Anello, Paolo Bosco   +2 more
exaly  

[Methionine synthase] reductase

2008
openaire   +1 more source

Functional Variant in Methionine Synthase Reductase Intron-1 Significantly Increases the Risk of Congenital Heart Disease in the Han Chinese Population

Circulation, 2012
JianYuan Zhao, Li Jin, Xue-Yan Yang
exaly