Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

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

Volumn 103, Issue 43, 2006, Pages 15927-15932

  Lindhurst, Marjorie J ^a,e   Fiermonte, Giuseppe ^b   Song, Shiwei ^c   Struys, Eduard ^d   De Leonardis, Francesco ^b   Schwartzberg, Pamela L ^a   Chen, Amy ^a   Castegna, Alessandra ^b   Verhoeven, Nanda ^d   Mathews, Christopher K ^c   Palmieri, Ferdinando ^b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF BARI   (Italy)

^c OREGON STATE UNIVERSITY   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Development; Mitochondrial transporter; Mouse model; Neural tube defect; Thiamine pyrophosphate deficiency

Indexed keywords

2 OXOGLUTARIC ACID; CARRIER PROTEIN; COCARBOXYLASE; DEOXYRIBONUCLEOSIDE TRIPHOSPHATE; NUCLEOSIDE TRIPHOSPHATE; PROTEIN DNC; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

ALPHA KETOGLUTARIC ACIDURIA; AMNION FLUID; ANEMIA; ANIMAL CELL; ANIMAL MODEL; ARTICLE; BRAIN DEVELOPMENT; CENTRAL NERVOUS SYSTEM MALFORMATION; DNC GENE; EMBRYO; EMBRYO DEATH; ERYTHROPOIESIS; GENE; GENE MUTATION; INBORN ERROR OF METABOLISM; KNOCKOUT MOUSE; MICROCEPHALY; MITOCHONDRION; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NEURAL TUBE DEFECT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN TRANSPORT; SLC25A19 GENE; THIAMINE PYROPHOSPHATE DEFICIENCY; YOLK SAC;

ANEMIA; ANIMALS; ANION TRANSPORT PROTEINS; CENTRAL NERVOUS SYSTEM; EMBRYO; EMBRYO LOSS; KETOGLUTARIC ACIDS; MEMBRANE TRANSPORT PROTEINS; MICE; MICE, KNOCKOUT; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; THIAMINE PYROPHOSPHATE;

ANIMALIA;

EID: 33750475923     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0607661103     Document Type: Article

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