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Items: 1 to 50 of 156

1.

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

McDonald MK, Fritz JA, Jia D, Scheuchner D, Snyder FF, Stanislaus A, Curle J, Li L, Stabler SP, Allen RH, Mains PE, Gravel RA.

Mol Genet Metab. 2017 Dec;122(4):160-171. doi: 10.1016/j.ymgme.2017.11.002. Epub 2017 Nov 11.

PMID:
29153845
2.

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

León-Del-Río A, Valadez-Graham V, Gravel RA.

Annu Rev Nutr. 2017 Aug 21;37:207-223. doi: 10.1146/annurev-nutr-042617-104653. Epub 2017 May 31. Review.

PMID:
28564555
3.

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

Gravel RA.

Mol Genet Metab. 2014 Mar;111(3):305-306. doi: 10.1016/j.ymgme.2013.11.010. Epub 2013 Dec 1. No abstract available.

PMID:
24361214
4.

Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development.

Padmanabhan N, Jia D, Geary-Joo C, Wu X, Ferguson-Smith AC, Fung E, Bieda MC, Snyder FF, Gravel RA, Cross JC, Watson ED.

Cell. 2013 Sep 26;155(1):81-93. doi: 10.1016/j.cell.2013.09.002.

5.

Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

Froese DS, Krojer T, Wu X, Shrestha R, Kiyani W, von Delft F, Gravel RA, Oppermann U, Yue WW.

Biochemistry. 2012 Jun 26;51(25):5083-90. doi: 10.1021/bi300150y. Epub 2012 Jun 14.

PMID:
22642810
6.

Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Froese DS, Gravel RA.

Expert Rev Mol Med. 2010 Nov 29;12:e37. doi: 10.1017/S1462399410001651. Review.

7.

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW.

J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28.

8.

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

Seyrantepe V, Lema P, Caqueret A, Dridi L, Bel Hadj S, Carpentier S, Boucher F, Levade T, Carmant L, Gravel RA, Hamel E, Vachon P, Di Cristo G, Michaud JL, Morales CR, Pshezhetsky AV.

PLoS Genet. 2010 Sep 16;6(9):e1001118. doi: 10.1371/journal.pgen.1001118.

9.

Structural impact of human and Escherichia coli biotin carboxyl carrier proteins on biotin attachment.

Healy S, McDonald MK, Wu X, Yue WW, Kochan G, Oppermann U, Gravel RA.

Biochemistry. 2010 Jun 8;49(22):4687-94. doi: 10.1021/bi901612y.

PMID:
20443544
10.

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Froese DS, Healy S, McDonald M, Kochan G, Oppermann U, Niesen FH, Gravel RA.

Mol Genet Metab. 2010 May;100(1):29-36. doi: 10.1016/j.ymgme.2010.02.005. Epub 2010 Feb 15.

11.

Biotin is not a natural histone modification.

Healy S, Perez-Cadahia B, Jia D, McDonald MK, Davie JR, Gravel RA.

Biochim Biophys Acta. 2009 Nov-Dec;1789(11-12):719-33. doi: 10.1016/j.bbagrm.2009.09.003. Epub 2009 Sep 18.

PMID:
19770080
12.

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

Froese DS, Zhang J, Healy S, Gravel RA.

Mol Genet Metab. 2009 Dec;98(4):338-43. doi: 10.1016/j.ymgme.2009.07.014. Epub 2009 Aug 3.

PMID:
19700356
13.

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

Zhang J, Wu X, Padovani D, Schubert HL, Gravel RA.

Mol Genet Metab. 2009 Nov;98(3):278-84. doi: 10.1016/j.ymgme.2009.06.014. Epub 2009 Jun 27.

PMID:
19625202
14.

Income and psychological distress: the role of the social environment.

Orpana HM, Lemyre L, Gravel R.

Health Rep. 2009 Mar;20(1):21-8.

15.

Nonenzymatic biotinylation of histone H2A.

Healy S, Heightman TD, Hohmann L, Schriemer D, Gravel RA.

Protein Sci. 2009 Feb;18(2):314-28. doi: 10.1002/pro.37.

16.

Sleeping beauty mutase (sbm) is expressed and interacts with ygfd in Escherichia coli.

Froese DS, Dobson CM, White AP, Wu X, Padovani D, Banerjee R, Haller T, Gerlt JA, Surette MG, Gravel RA.

Microbiol Res. 2009;164(1):1-8. doi: 10.1016/j.micres.2008.08.006. Epub 2008 Oct 23.

17.

Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.

Pérez-Monjaras A, Cervantes-Roldán R, Meneses-Morales I, Gravel RA, Reyes-Carmona S, Solórzano-Vargas S, González-Noriega A, León-Del-Río A.

J Biol Chem. 2008 Dec 5;283(49):34150-8. doi: 10.1074/jbc.M806985200. Epub 2008 Oct 9.

18.

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

Seyrantepe V, Canuel M, Carpentier S, Landry K, Durand S, Liang F, Zeng J, Caqueret A, Gravel RA, Marchesini S, Zwingmann C, Michaud J, Morales CR, Levade T, Pshezhetsky AV.

Hum Mol Genet. 2008 Jun 1;17(11):1556-68. doi: 10.1093/hmg/ddn043. Epub 2008 Feb 11.

PMID:
18270209
19.

Restricted role for methionine synthase reductase defined by subcellular localization.

Froese DS, Wu X, Zhang J, Dumas R, Schoel WM, Amrein M, Gravel RA.

Mol Genet Metab. 2008 May;94(1):68-77. doi: 10.1016/j.ymgme.2007.11.019. Epub 2008 Jan 24.

20.

A novel inhibitory mechanism of mitochondrion-dependent apoptosis by a herpesviral protein.

Feng P, Liang C, Shin YC, Xiaofei E, Zhang W, Gravel R, Wu TT, Sun R, Usherwood E, Jung JU.

PLoS Pathog. 2007 Dec;3(12):e174.

21.

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

Elmore CL, Wu X, Leclerc D, Watson ED, Bottiglieri T, Krupenko NI, Krupenko SA, Cross JC, Rozen R, Gravel RA, Matthews RG.

Mol Genet Metab. 2007 May;91(1):85-97. Epub 2007 Mar 21.

22.

Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway.

Bifsha P, Landry K, Ashmarina L, Durand S, Seyrantepe V, Trudel S, Quiniou C, Chemtob S, Xu Y, Gravel RA, Sladek R, Pshezhetsky AV.

Cell Death Differ. 2007 Mar;14(3):511-23. Epub 2006 Aug 4.

23.

Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

Yamada K, Gravel RA, Toraya T, Matthews RG.

Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9476-81. Epub 2006 Jun 12.

24.

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

Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Aug;88(4):327-33. Epub 2006 May 11.

PMID:
16697227
25.

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Apr;87(4):315-22. Epub 2006 Jan 24.

PMID:
16439175
26.

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

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.

Mol Genet Metab. 2006 Mar;87(3):219-25. Epub 2006 Jan 10.

PMID:
16410054
27.

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

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.

Nat Genet. 2006 Jan;38(1):93-100. Epub 2005 Nov 27. Erratum in: Nat Genet. 2006 Aug;38(8):957.

PMID:
16311595
28.

The Canadian Community Health Survey: mental health and well-being.

Gravel R, Béland Y.

Can J Psychiatry. 2005 Sep;50(10):573-9.

PMID:
16276847
29.

Molecular genetics of biotin metabolism: old vitamin, new science.

Gravel RA, Narang MA.

J Nutr Biochem. 2005 Jul;16(7):428-31. Review.

PMID:
15992684
30.

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

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS.

Hum Mutat. 2004 Dec;24(6):509-16. Erratum in: Hum Mutat. 2005 Mar;25(3):317.

PMID:
15523652
31.

Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.

Pacheco-Alvarez D, Solórzano-Vargas RS, Gravel RA, Cervantes-Roldán R, Velázquez A, León-Del-Río A.

J Biol Chem. 2004 Dec 10;279(50):52312-8. Epub 2004 Sep 28.

32.

Recent research on immigrant health from statistics Canada's population surveys.

Ali JS, McDermott S, Gravel RG.

Can J Public Health. 2004 May-Jun;95(3):I9-13. Review.

PMID:
15191126
33.

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

Miklyaeva EI, Dong W, Bureau A, Fattahie R, Xu Y, Su M, Fick GH, Huang JQ, Igdoura S, Hanai N, Gravel RA.

Brain Res. 2004 Mar 19;1001(1-2):37-50.

PMID:
14972652
34.

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

Narang MA, Dumas R, Ayer LM, Gravel RA.

Hum Mol Genet. 2004 Jan 1;13(1):15-23. Epub 2003 Nov 12.

PMID:
14613969
35.

Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.

Bourgoin C, Emiliani C, Kremer EJ, Gelot A, Tancini B, Gravel RA, Drugan C, Orlacchio A, Poenaru L, Caillaud C.

Gene Ther. 2003 Oct;10(21):1841-9.

PMID:
12960974
36.

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

Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R; National Heart, Lung and Blood Institute, National Institutes of Health.

Atherosclerosis. 2003 Jan;166(1):49-55.

PMID:
12482550
37.

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

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA.

Hum Mol Genet. 2002 Dec 15;11(26):3361-9.

PMID:
12471062
38.

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

Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.

Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. Epub 2002 Nov 15.

39.

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS.

Am J Hum Genet. 2002 Jul;71(1):143-53. Epub 2002 May 30.

40.

Naturally occurring mutations in GM2 gangliosidosis: a compendium.

Triggs-Raine B, Mahuran DJ, Gravel RA.

Adv Genet. 2001;44:199-224. Review. No abstract available.

PMID:
11596984
41.

The beta-hexosaminidase story in Toronto: from enzyme structure to gene mutation.

Mahuran DJ, Gravel RA.

Adv Genet. 2001;44:145-63. No abstract available.

PMID:
11596980
42.

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

Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.

Mol Genet Metab. 2001 Sep-Oct;74(1-2):238-47.

PMID:
11592820
44.

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

Brown CA, McKinney KQ, Kaufman JS, Gravel RA, Rozen R.

J Cardiovasc Risk. 2000 Jun;7(3):197-200.

PMID:
11006889
45.
46.

I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.

Adamali HI, Somani IH, Huang JQ, Mahuran D, Gravel RA, Trasler JM, Hermo L.

J Androl. 1999 Nov-Dec;20(6):779-802.

47.

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

Leclerc D, Odièvre M, Wu Q, Wilson A, Huizenga JJ, Rozen R, Scherer SW, Gravel RA.

Gene. 1999 Nov 15;240(1):75-88.

PMID:
10564814
48.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.

Hum Mutat. 1999;14(4):275-82. Review.

PMID:
10502773
49.

A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk.

Ma J, Stampfer MJ, Christensen B, Giovannucci E, Hunter DJ, Chen J, Willett WC, Selhub J, Hennekens CH, Gravel R, Rozen R.

Cancer Epidemiol Biomarkers Prev. 1999 Sep;8(9):825-9.

50.

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