Interaction between methionine synthase isoforms and MMACHC: Characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

Human Molecular Genetics

Volumn 22, Issue 22, 2013, Pages 4591-4601

  Fofou Caillierez, Ma'atem B ^a   Mrabet, Nadir T ^a   Chéry, Céline ^a   Dreumont, Natacha ^a   Flayac, Justine ^a   Pupavac, Mihaela ^a,b   Paoli, Justine ^a   Alberto, Jean Marc ^a   Coelho, David ^a   Camadro, Jean Michel ^d   Feillet, Francois ^a   Watkins, David ^b   Fowler, Brian ^c   Rosenblatt, David S ^b   Gueánt, Jean Louis ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d INSTITUT JACQUES MONOD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COBALAMIN; COBALAMIN C; COBALAMIN G; METHIONINE SYNTHASE; MMACHC PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MEGALOBLASTIC ANEMIA; MOLECULAR DOCKING; MOLECULAR MODEL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RNA SPLICING; SKIN FIBROBLAST;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ANEMIA, MEGALOBLASTIC; BINDING SITES; CARRIER PROTEINS; CELLS, CULTURED; GENE KNOCKDOWN TECHNIQUES; HEK293 CELLS; HUMANS; HYDROXOCOBALAMIN; MODELS, MOLECULAR; MOLECULAR DOCKING SIMULATION; PROTEIN BINDING; PROTEIN ISOFORMS; PROTEIN STRUCTURE, SECONDARY; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84887003509     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt308     Document Type: Article

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