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Fig. 3 | Genome Medicine

Fig. 3

From: MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Fig. 3

In vivo analysis of MIPEP-derived SNVs in the homologous Oct1 protein from S. cerevisiae. a Immunoblot analysis of mitochondria isolated from oct1Δ yeast cells transformed with plasmids encoding wild-type Oct1 (Oct1 WT) or Oct1 mutants (L83Q, L339F, K376E) under the endogenous promoter or the empty control plasmid (e.v.). Cells were grown at 24 °C on a fermentable carbon source prior to organelle isolation. b Growth of yeast strains expressing Oct1WT or mutants Oct1L339F and Oct1K376E. Plasmid shuffling generated strains and growth behavior assessed on fermentative and respiratory carbon sources at low (23 °C) and high (37–38 °C) temperature. c Immunodecoration of mitochondria isolated from strains shown in b after cell growth for 10 h at 37 °C under respiratory conditions (non-fermentable carbon source). i processing intermediate, m mature protein, p precursor

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