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

Nature genetics, 2006-01, Vol.38 (1), p.93-100

2006

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Human Methionine Synthase Reductase Is a Molecular Chaperone for Human Methionine Synthase

Proceedings of the National Academy of Sciences - PNAS, 2006-06, Vol.103 (25), p.9476-9481

2006

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Structure of MMACHC Reveals an Arginine-Rich Pocket and a Domain-Swapped Dimer for Its B12 Processing Function

Biochemistry (Easton), 2012-06, Vol.51 (25), p.5083-5090

2012

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Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss

PLoS genetics, 2010-09, Vol.6 (9), p.e1001118-e1001118

2010

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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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Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization

Annual review of nutrition, 2017-08, Vol.37 (1), p.207-223

2017

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Holocarboxylase synthetase: A multitalented protein with roles in biotin transfer, gene regulation and chromatin dynamics

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.305-306

Gravel, Roy A.

2014

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Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

The Journal of biological chemistry, 2010-12, Vol.285 (49), p.38204-38213

2010

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Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

The Journal of biological chemistry, 2008-12, Vol.283 (49), p.34150-34158

2008

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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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Identification of ABC transporters acting in vitamin B 12 metabolism in Caenorhabditis elegans

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.160-171

2017

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Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.160-171

2017

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Biotin is not a natural histone modification

Biochimica et biophysica acta, 2009-11, Vol.1789 (11), p.719-733

2009

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Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase

Human molecular genetics, 2004-01, Vol.13 (1), p.15-23

2004

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Nonenzymatic biotinylation of histone H2A

Protein science, 2009-02, Vol.18 (2), p.314-328

2009

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

Gene, 1999-11, Vol.240 (1), p.75-88

1999

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Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

Human molecular genetics, 2008-06, Vol.17 (11), p.1556-1568

2008

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Structural Impact of Human and Escherichia coli Biotin Carboxyl Carrier Proteins on Biotin Attachment

Biochemistry (Easton), 2010-06, Vol.49 (22), p.4687-4694

2010

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Molecular genetics of biotin metabolism: old vitamin, new science

The Journal of nutritional biochemistry, 2005-07, Vol.16 (7), p.428-431

2005

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Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.278-284

2009

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17. Naturally occurring mutations in GM2 gangliosidosis: A compendium

Advances in Genetics, 2001, Vol.44, p.199-224

2001

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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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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 in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development

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

Human Methionine Synthase Reductase Is a Molecular Chaperone for Human Methionine Synthase

Structure of MMACHC Reveals an Arginine-Rich Pocket and a Domain-Swapped Dimer for Its B12 Processing Function

Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss

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

Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization

Holocarboxylase synthetase: A multitalented protein with roles in biotin transfer, gene regulation and chromatin dynamics

Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

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

Identification of ABC transporters acting in vitamin B 12 metabolism in Caenorhabditis elegans

Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans

Biotin is not a natural histone modification

Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase

Nonenzymatic biotinylation of histone H2A

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

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

Structural Impact of Human and Escherichia coli Biotin Carboxyl Carrier Proteins on Biotin Attachment

Molecular genetics of biotin metabolism: old vitamin, new science

Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase

17. Naturally occurring mutations in GM2 gangliosidosis: A compendium

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

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

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