id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_j7kjip5ncjexjo6lzflnvy62au	M. J. Lindhurst	Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia	2006.0	6	.pdf	application/pdf	6193	826	73	The mitochondria of Slc25a19�/� and MCPHA cells have undetectable and markedly reduced ThPP content, respectively. Functional data showed that SLC25A19 transported deoxynucleotides across membranes in an in vitro assay Abbreviations: MCPHA, Amish lethal microcephaly; En, embryonic day n; AKG, �-ketoglutarate; ThPP, thiamine pyrophosphate; AKGuria, �-ketoglutaric acid; MEF, murine embryonic fibroblast; ThMP, thiamine monophosphate; KGDH, AKG dehydrogenase; PDH, pyruvate dehydrogenase. loss-of-function mutations in SLC25A19 do not disrupt mitochondrial deoxynucleotide pools in mice or in humans. similarity), the ability of SLC25A19 to transport ThPP and ThMP was tested by using phospholipid vesicles reconstituted with recombinant wild-type and G177A mutant human SLC25A19. Mitochondrial dNTP levels in wild-type and mutant MEFs and human Transport assays of wild-type and mutant SLC25A19. wild-type and mutant human and mouse cells were isolated. fraction of human lymphoblasts, ThPP and ThMP levels were activities were lower in SLC25A19 mutant cells than in controls.	./cache/work_j7kjip5ncjexjo6lzflnvy62au.pdf	./txt/work_j7kjip5ncjexjo6lzflnvy62au.txt