D. Leclerc

发表

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation

R. Rozen, S. Sibani, D. Leclerc, 2003, Human mutation.

Differential gene expression and methylation in the retinoid/PPARA pathway and of tumor suppressors may modify intestinal tumorigenesis induced by low folate in mice.

R. Rozen, L. Mikael, D. Leclerc, 2013, Molecular nutrition & food research.

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

R. Matthews, R. Rozen, J. Cross, 2007, Molecular genetics and metabolism.

Identification of Candidate Active Site Residues in Lysosomal β-Hexosaminidase A*

B. Henrissat, C. Vorgias, D. Leclerc, 1997, The Journal of Biological Chemistry.

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

D. Leclerc, D. Rosenblatt, J. Phillips, 1998, American journal of human genetics.

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

D. Leclerc, D. Rosenblatt, R. Gravel, 1999, Human molecular genetics.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA Neurology.

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

D. Leclerc, N. Wakamatsu, R. Gravel, 1995, Proceedings of the National Academy of Sciences of the United States of America.

SLC7A9 mutations in all three cystinuria subtypes.

R. Rozen, M. Palacín, D. Leclerc, 2002, Kidney international.

Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria?

R. Rozen, P. Goodyer, D. Leclerc, 2001, Molecular genetics and metabolism.

Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms

R. Rozen, S. Sibani, D. Leclerc, 2013 .

Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.

D. Leclerc, E. Campeau, R. Gravel, 1999, Molecular genetics and metabolism.

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

G. Herman, K. Gibson, J. Saudubray, 1996, Human molecular genetics.

Low dietary folate initiates intestinal tumors in mice, with altered expression of G2-M checkpoint regulators polo-like kinase 1 and cell division cycle 25c.

R. Rozen, D. Leclerc, L. Deng, 2006, Cancer research.

Moderate Folic Acid Supplementation in Pregnant Mice Results in Behavioral Alterations in Offspring with Sex-Specific Changes in Methyl Metabolism

R. Rozen, M. Caudill, O. Malysheva, 2020, Nutrients.

[Molecular genetics of MTHFR: polymorphisms are not all benign].

R. Rozen, D. Leclerc, 2007, Medecine sciences : M/S.

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

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Murine diet/tissue and human brain tumorigenesis alter Mthfr/MTHFR 5′-end methylation

R. Rozen, N. Jabado, P. Metrakos, 2016, Mammalian Genome.

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

T. Hudson, T. Wai, D. Leclerc, 2002, Human molecular genetics.

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

R. Rozen, D. Leclerc, R. Gravel, 1999, Molecular genetics and metabolism.

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.

N Hanai, J. Marth, A. Peterson, 1996, Human molecular genetics.

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

D. Leclerc, E. Campeau, R. Gravel, 1999, Human molecular genetics.

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

Daniel Leclerc, Marc-André Elsliger, A. Pshezhetsky, 1997, Nature Genetics.

Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.

R. Rozen, B. Bedell, M. Caudill, 2012, Molecular genetics and metabolism.

Folate and Epigenetics: Colorectal Cancer Risk and Detection

R. Rozen, D. Leclerc, N. Lévesque, 2017 .

Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency

R. Rozen, D. Leclerc, L. Deng, 2014, Proteomics.

Endoplasmic Reticulum Stress Increases the Expression of Methylenetetrahydrofolate Reductase through the IRE1 Transducer*

R. Rozen, D. Leclerc, 2008, Journal of Biological Chemistry.

Genetic or nutritional disturbances in folate‐related pathways and epigenetic interactions

R. Rozen, D. Leclerc, 2017 .

Infant methionine synthase variants and risk for spina bifida

G. Shaw, R. Rozen, R. Finnell, 1999, Journal of medical genetics.

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

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

ApcMin/+ mouse model of colon cancer: Gene expression profiling in tumors

R. Rozen, D. Leclerc, L. Deng, 2004, Journal of cellular biochemistry.

Reduced folate carrier 80A→G polymorphism, plasma folate, and risk of placental abruption

R. Rozen, C. Ananth, D. Moore, 2008, Human Genetics.

Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: risk of placental abruption.

R. Rozen, C. Ananth, D. Leclerc, 2007, Molecular genetics and metabolism.

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

R. Rozen, N. Sabbaghian, L. Arbour, 1999, American journal of medical genetics.

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

P. Goyette, R. Rozen, P. Goyette, 1996, Human molecular genetics.

Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency

R. Rozen, B. Bedell, M. Pallàs, 2018, Molecular Neurobiology.

Susceptibility to intestinal tumorigenesis in folate-deficient mice may be influenced by variation in one-carbon metabolism and DNA repair.

R. Rozen, D. Leclerc, L. Deng, 2011, The Journal of nutritional biochemistry.

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

Aaron D. Wilson, S. Scherer, H. Heng, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation

R. Rozen, M. Aarabi, D. Leclerc, 2018, Human molecular genetics.

High folic acid intake increases methylation-dependent expression of Lsr and dysregulates hepatic cholesterol homeostasis.

J. Issa, J. Jelinek, R. Rozen, 2020, The Journal of nutritional biochemistry.

β,β-carotene 15,15'-monooxygenase and its substrate β-carotene modulate migration and invasion in colorectal carcinoma cells.

R. Rozen, D. Leclerc, L. Deng, 2013, The American journal of clinical nutrition.

b-Carotene 15 , 15 #-monooxygenase 1 and its substrate b-carotene modulate migration and invasion in colorectal carcinoma cells 1 – 4

R. Rozen, D. Leclerc, L. Deng, 2013 .

Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice

R. Rozen, S. J. James, S. Krupenko, 2008, Pharmacogenetics and genomics.

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Sex-Specific Gene Expression in Brain of Young Mice and Embryos

R. Rozen, M. Caudill, O. Malysheva, 2022, Nutrients.

Genes with Aberrant Expression in Murine Preneoplastic Intestine Show Epigenetic and Expression Changes in Normal Mucosa of Colon Cancer Patients

C. Sapienza, R. Rozen, D. Leclerc, 2013, Cancer Prevention Research.

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

T. Wai, P. Lepage, D. Leclerc, 2004, Human mutation.

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

T. Hudson, T. Wai, D. Leclerc, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Normal Mucosa of Colon Cancer Patients Intestine Show Epigenetic and Expression Changes in Genes with Aberrant Expression in Murine Preneoplastic

D. Leclerc, N. Lévesque, Yuanhang Cao, 2013 .

Effects of betaine in a murine model of mild cystathionine-β-synthase deficiency

R. Rozen, S. Zeisel, D. Leclerc, 2004 .

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

X. Wu, M. Ugarte, D. Leclerc, 2001, Molecular genetics and metabolism.

Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver

P. Chaurand, R. Rozen, Zu-hua Gao, 2018, Molecular nutrition & food research.

Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency

R. Rozen, D. Leclerc, W. Kruger, 2008, Journal of cellular biochemistry.

Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.

R. Rozen, R. Finnell, A. Devlin, 2003, Molecular genetics and metabolism.

Methionine Synthase Reductase

R. Rozen, D. Leclerc, D. Rosenblatt, 2002, Definitions.

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

S. Scherer, R. Rozen, D. Leclerc, 1999, Gene.

Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency

R. Rozen, B. Bedell, M. Pallàs, 2018, Molecular Neurobiology.

Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

R. Milos, R. Rozen, P. Goyette, 2002, Mammalian Genome.

Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation

R. Rozen, A. Peterson, D. Leclerc, 2011, Mammalian Genome.

Regulatory studies of murine methylenetetrahydrofolate reductase reveal two major promoters and NF-kappaB sensitivity.

R. Rozen, J. Hiscott, D. Leclerc, 2005, Biochimica et biophysica acta.

Characterization of a pseudogene for murine methylenetetrahydrofolate reductase

R. Rozen, D. Leclerc, Hiba Darwich-Codore, 2003, Molecular and Cellular Biochemistry.

Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.

A. Lamhonwah, D. Leclerc, R. Gravel, 1994, Genomics.

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-specific Placental Transcription Changes.

R. Rozen, T. Bottiglieri, M. Caudill, 2021, Molecular nutrition & food research.

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

N. Longo, D. Leclerc, D. Watkins, 2006, Molecular genetics and metabolism.

Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism

T. Wai, P. Lepage, D. Leclerc, 2005 .

Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.

R. Rozen, S. Zeisel, D. Leclerc, 2004, Metabolism: clinical and experimental.

Folate and Epigenetics: Colorectal Cancer Risk and Detection

R. Rozen, D. Leclerc, N. Lévesque, 2019, Handbook of Nutrition, Diet, and Epigenetics.

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

R. Rozen, N. Sabbaghian, D. Leclerc, 1999, American journal of medical genetics.

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

T. Hudson, T. Wai, D. Leclerc, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Oncogenic role of PDK4 in human colon cancer cells

C. Sapienza, W. Foulkes, R. Rozen, 2017, British Journal of Cancer.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA neurology.