Publications by authors named "E G Seifert"

Pediatric emergency care (PEC) training for health care workers (HCWs) is commonly offered in the form of short courses. This study gathers the perspectives of HCWs from eight African countries on how to best deliver and implement short training courses in PEC. This is a qualitative study using semi-structured key informant (KI) interviews.

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Unlabelled: Inorganic polyphosphate (polyP) is an evolutionary and ancient polymer composed by orthophosphate units linked by phosphoanhydride bonds. In mammalian cells, polyP shows a high localization in mammalian mitochondria, and its regulatory role in various aspects of bioenergetics has already been demonstrated, via molecular mechanism(s) yet to be fully elucidated. In recent years, a role for polyP in signal transduction, from brain physiology to the bloodstream, has also emerged.

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Mitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 gene. The 3 missense mutations that were identified each carry severe phenotypic consequences that correlate with the presence or not of residual PDE12 protein, show cell-type-specific adaptive responses, and specificity in the mtDNA-encoded electron transport chain subunits that are most affected.

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Article Synopsis
  • * The study found that N-methylation of guanosine at position 9 (mG9) stabilizes wild-type mt-Leu(UAA) tRNA but destabilizes certain pathogenic variants associated with MELAS.
  • * Findings suggest that modifying the methylation level of mt-tRNAs could be a potential therapeutic approach for mt-tRNA-related diseases by impacting their stability and functionality.
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Activating Ca-sensitive enzymes of oxidative metabolism while preventing calcium overload that leads to mitochondrial and cellular injury requires dynamic control of mitochondrial Ca uptake. This is ensured by the mitochondrial calcium uptake (MICU)1/2 proteins that gate the pore of the mitochondrial calcium uniporter (mtCU). MICU1 is relatively sparse in the heart, and recent studies claimed the mammalian heart lacks MICU1 gating of mtCU.

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