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Article

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 - 24 Oct 2006

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

Abstract excerpt

SLC25A19 mutations cause Amish lethal microcephaly (MCPHA), which markedly retards brain development and leads to alpha-ketoglutaric aciduria. Previous data suggested that SLC25A19, also called DNC, is a mitochondrial deoxyribonucleotide transporter. We generated a knockout mouse model of Slc25a1...

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Identifiers

PMID: 17035501
DOI: 10.1073/pnas.0607661103
PMCID: PMC1595310

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17035501-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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