Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 2, 2015, Pages 400-405

  Field, Martha S ^a   Kamynina, Elena ^a   Watkins, David ^b,c   Rosenblatt, David S ^b,c   Stover, Patrick J ^a  

^a Department of Obstetrics Gynecology   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Folate; Megaloblastic anemia; MTHFD1; SCID; Thymidylate

Indexed keywords

DNA; METHIONINE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; THYMIDINE PHOSPHATE; UNCLASSIFIED DRUG; MTHFD1 PROTEIN, HUMAN; MUTANT PROTEIN; STOP CODON;

ADENOSINE DEAMINASE DEFICIENCY; ALLELE; ARTICLE; CONTROLLED STUDY; DNA SYNTHESIS; FIBROBLAST; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MOLECULAR WEIGHT; NUCLEOTIDE METABOLISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PURINE SYNTHESIS; S PHASE CELL CYCLE CHECKPOINT; AMINO ACID SUBSTITUTION; BIOSYNTHESIS; CELL LINE; CELL NUCLEUS; CHEMISTRY; DEFICIENCY; DNA DAMAGE; GENETICS; MEGALOBLASTIC ANEMIA; METABOLISM; PHENOTYPE; POINT MUTATION; SEVERE COMBINED IMMUNODEFICIENCY; STOP CODON;

AMINO ACID SUBSTITUTION; ANEMIA, MEGALOBLASTIC; CELL LINE; CELL NUCLEUS; CODON, NONSENSE; DNA DAMAGE; FIBROBLASTS; HUMANS; METABOLIC NETWORKS AND PATHWAYS; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); MUTANT PROTEINS; PHENOTYPE; POINT MUTATION; SEVERE COMBINED IMMUNODEFICIENCY; THYMIDINE MONOPHOSPHATE;

EID: 84920973485     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1414555112     Document Type: Article

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