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Description

pmid:12973386 56

Collectively, substitutions in the m14/m15 region partially compromise the phaseseparation capacity of PIF4 both in vitro and in vivo

Studies in SLC25A19 knockout mice and in carriers of the SLC25A19 mutation, responsible for the Amish lethal microcephaly (MCPHA, see below) show, respectively, virtually undetectable and markedly reduced mitochondrial TPP levels in mouse embryonic fibroblasts and human lymphoblasts (56), which were completely restored upon addition of TPP to the PDH and KGDH complex assay mixtures (56)