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

SLC25A19 mutations cause Amish lethal microcephaly (MCPHA), which markedly retards brain development and leads to α-ketoglutaric aciduria. Previous data suggested that SLC25A19, also called DNC, is a mitochondrial deoxyribonucleotide transporter. We generated a knockout mouse model of Slc25a19. Thes...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2006
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1595310/
https://ncbi.nlm.nih.gov/pubmed/17035501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0607661103
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados