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Mutation in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development

Cell, 2013-09, Vol.155 (1), p.81-93

2013

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

Molecular genetics and metabolism, 2007-05, Vol.91 (1), p.85-97

2007

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Identification of the Gene Responsible for the cblA Complementation Group of Vitamin B12-Responsive Methylmalonic Acidemia Based on Analysis of Prokaryotic Gene Arrangements

Proceedings of the National Academy of Sciences - PNAS, 2002-11, Vol.99 (24), p.15554-15559

2002

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Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

The Journal of biological chemistry, 2004-12, Vol.279 (50), p.52312-52318

2004

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Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study

Atherosclerosis, 2003, Vol.166 (1), p.49-55

2003

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Neuronal apoptosis in sudden infant death syndrome

Pediatric research, 1999-02, Vol.45 (2), p.166-172

1999

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Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria

Molecular genetics and metabolism, 2006-08, Vol.88 (4), p.327-333

2006

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Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Human mutation, 2004-12, Vol.24 (6), p.509-516

2004

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Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.219-225

2006

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Late onset Tay–Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system

Brain research, 2004-03, Vol.1001 (1), p.37-50

2004

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

American journal of medical genetics, 1999-05, Vol.84 (2), p.151-157

1999

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

Molecular genetics and metabolism, 1999-08, Vol.67 (4), p.317-323

1999

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

Human molecular genetics, 1996-01, Vol.5 (1), p.1-14

1996

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A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease

European journal of cardiovascular prevention and rehabilitation, 2000-06, Vol.7 (3), p.197-200

2000

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Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

The Journal of pediatrics, 1982-10, Vol.101 (4), p.546-550

1982

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Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency

Pediatric research, 1982-02, Vol.16 (2), p.126-129

1982

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β-hexosaminidase immunolocalization and α- and β-subunit gene expression in the rat testis and epididymis

Molecular reproduction and development, 1997-03, Vol.46 (3), p.227-242

1997

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Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

Human molecular genetics, 1994-01, Vol.3 (1), p.139-145

1994

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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Human molecular genetics, 1995-04, Vol.4 (4), p.777-780

1995

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Characterization of the murine β-hexosaminidase ( HEXB) gene

Biochimica et biophysica acta, 1994-10, Vol.1227 (1), p.79-86

1994

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Two distinct mutations at the same site in the PCCB gene in propionic acidemia

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.249-254

1990

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Isolation and characterization of Chinese hamster cell mutants resistant to the cytotoxic effects of chromate

Somatic Cell Genetics, 1981-09, Vol.7 (5), p.535-546

1981

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Effects of repeated distension arthrographies combined with a home exercise program among adults with idiopathic adhesive capsulitis of the shoulder

American journal of physical medicine & rehabilitation, 2004-07, Vol.83 (7), p.537

2004

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Mutation in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development

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

Identification of the Gene Responsible for the cblA Complementation Group of Vitamin B12-Responsive Methylmalonic Acidemia Based on Analysis of Prokaryotic Gene Arrangements

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study

Neuronal apoptosis in sudden infant death syndrome

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

Late onset Tay–Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system

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

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

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

A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency

β-hexosaminidase immunolocalization and α- and β-subunit gene expression in the rat testis and epididymis

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Characterization of the murine β-hexosaminidase ( HEXB) gene

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

Isolation and characterization of Chinese hamster cell mutants resistant to the cytotoxic effects of chromate

Effects of repeated distension arthrographies combined with a home exercise program among adults with idiopathic adhesive capsulitis of the shoulder

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