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David S. Rosenblatt, MDCM

Senior Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Professor, Department of Medicine, Division of Human Genetics, Faculty of Medicine, McGill University

 

Keywords


vitamin B12 • folate • inborn errors • genetics • homocysteine

Research Focus


My research focuses on the study of individuals with rare inborn errors of vitamin B12 and folate metabolism. Using cultured fibroblasts from pateints with these disorders, my group has been able to work out the metabolic pathway and to discover novel genes.

Selected Publications


Click on Pubmed to see my current publications list

  • Deme JC, Hancock MA, Xia X, Plesa M, Kim JC, Carpenter EP, Rosenblatt DS, Coulton JW. The putative human lysosomal vitamin B12 transporters LMBD1 and ABCD4 interact in vitro. Mol Membrane Biol 31:250-261, 2014.

  • Field MS, Kamynina E, Watkins D, Rosenblatt DS, Stover PJ. Mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis P Natl Acad Sci USA 112:400-405, 2014 PMID: 25548164.

  • Coelho D, Kim JC, Miouse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nature Genetics 44:1152-1155, 2012. PMID: 22922874.

  • Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Dempsey Nunez L, Majewski J, Rosenblatt DS. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. J Med Genet. 48(9):590-592, 2011. PMID: 21813566.

  • Alfares A, Dempsey Nunez L, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KCH, Majewski J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet. 48(9):602-605, 2011. PMID: 21785126.