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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
SurnameWatkins
First nameDavid
InitialsD
Publication(s)
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 Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L 2002 Am. J. Hum. Genet. PubMed
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 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type 2006 Nat. Genet. PubMed
Watkins, D, Rosenblatt, DS Inborn errors of cobalamin absorption and metabolism 2011 Am J Med Genet C Semin Med Genet PubMed
Coelho, D, Kim, JC, Miousse, 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 2012 Nat. Genet. PubMed
Lerner-Ellis, JP, Dobson, CM, Wai, T, Watkins, D, Tirone, JC, Leclerc, D, Doré, C, Lepage, P, Gravel, RA, Rosenblatt, DS Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism 2004 Hum. Mutat. PubMed
Quadros, EV, Lai, SC, Nakayama, Y, Sequeira, JM, Hannibal, L, Wang, S, Jacobsen, DW, Fedosov, S, Wright, E, Gallagher, RC, Anastasio, N, Watkins, D, Rosenblatt, DS Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12) 2010 Hum. Mutat. PubMed
Lerner-Ellis, JP, Anastasio, N, Liu, J, Coelho, D, Suormala, T, Stucki, M, Loewy, AD, Gurd, S, Grundberg, E, Morel, CF, Watkins, D, Baumgartner, MR, Pastinen, T, Rosenblatt, DS, Fowler, B Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations 2009 Hum. Mutat. PubMed
Mah, W, Deme, JC, Watkins, D, Fung, S, Janer, A, Shoubridge, EA, Rosenblatt, DS, Coulton, JW Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism 2013 Mol. Genet. Metab. PubMed
Hilton, JF, Christensen, KE, Watkins, D, Raby, BA, Renaud, Y, de la Luna, S, Estivill, X, MacKenzie, RE, Hudson, TJ, Rosenblatt, DS The molecular basis of glutamate formiminotransferase deficiency 2003 Hum Mutat PubMed