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Journal Abstract Search

356 related items for PubMed ID: 16843692

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  • 2. 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. PubMed ID: 16697227
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Manoli I, Sloan JL, Venditti CP.
    ; 1993 Aug. PubMed ID: 20301409
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  • 5. A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans.
    Bito T, Yabuta Y, Ichiyanagi T, Kawano T, Watanabe F.
    FEBS Open Bio; 2014 Aug; 4():722-9. PubMed ID: 25161880
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  • 8. Epimerase (Msed_0639) and mutase (Msed_0638 and Msed_2055) convert (S)-methylmalonyl-coenzyme A (CoA) to succinyl-CoA in the Metallosphaera sedula 3-hydroxypropionate/4-hydroxybutyrate cycle.
    Han Y, Hawkins AS, Adams MW, Kelly RM.
    Appl Environ Microbiol; 2012 Sep; 78(17):6194-202. PubMed ID: 22752162
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  • 11. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.
    Hum Mutat; 2007 Oct; 28(10):1045. PubMed ID: 17823972
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  • 14. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
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  • 16. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA.
    Mol Genet Metab; 2021 May; 133(1):71-82. PubMed ID: 33741272
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  • 17. Genetic and genomic systems to study methylmalonic acidemia.
    Chandler RJ, Venditti CP.
    Mol Genet Metab; 2005 May; 86(1-2):34-43. PubMed ID: 16182581
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  • 18. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
    Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T.
    Mol Genet Metab; 2004 Aug; 82(4):329-33. PubMed ID: 15308131
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  • 20. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
    Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, Alijanpour M, Varasteh A.
    Mol Biol Rep; 2019 Feb; 46(1):271-285. PubMed ID: 30712249
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