Methionine-Synthase-Reductase

Bosco P et al. (2003) 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.

O'Leary VB et al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

Hobbs CA et al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

James SJ et al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

Wilson A et al. (1999) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

Wilson A et al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

Tauro GP et al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.

Zavadáková P et al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadakova P et al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

Leclerc D et al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Schuh S et al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

Rosenblatt DS et al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

Yamada K et al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

Doolin MT et al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

Orphanet article

NCBI article

OMIM.ORG article