A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida

Aaron Wilson, Robert W. Platt, Qing Wu, +5

Molecular Genetics and Metabolism

Vitamin NutritionBiosynthesisSystems BiologyEngineeringBiochemistry +5

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

Daniel Leclerc

Human Molecular Genetics

Mendelian DisorderBiochemistryGenetic DisorderMedicineGenetics +11

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

Daniel Leclerc, Aaron Wilson, Renaud Dumas, +8

Proceedings of the National Academy of Sciences

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek, +19

Nature Genetics

BiologyCblc TypeMethylmalonic AciduriaGenetic DisorderGenetics +9

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

Benedicte Christensen, Laura Arbour, Pamela V. Tran, +8

American Journal of Medical Genetics

Mutant GenotypeGeneticsGenetic EpidemiologyHuman PolymorphismGenetic Medicine +15

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases

Daniel J. Phaneuf, Nobuaki Wakamatsu, Jingqi Huang, +13

Human Molecular Genetics

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

Alexey V. Pshezhetsky, Catherine Richard, Lorraine Michaud, +8

Nature Genetics

BiologyGenetic DisorderChromosomal MappingGeneticsGenetic Engineering +6

Identification of the gene responsible for the <i>cblA</i> complementation group of vitamin B ₁₂ -responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

Chris Dobson, Timothy Wai, Daniel Leclerc, +6

Proceedings of the National Academy of Sciences

Oncogenic role of PDK4 in human colon cancer cells

Daniel Leclerc, Diep Pham, Nancy Lévesque, +4

British Journal of Cancer

Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase

C. Lee Elmore, Xuchu Wu, Daniel Leclerc, +8

Molecular Genetics and Metabolism

Energy MetabolismBiochemistryMethionine Synthase ReductasePhysiologyMice Deficient +9