This thesis summarizes a research programme on the role of hypoxia-inducible factor (HIF) and its 2alpha subunit in systemic human physiology. Experiments were performed to assess the role of HIF in the regulation of skeletal muscle metabolism, cardiac anatomy, function and energy metabolism, and in cardiopulmonary physiology. Patients with different genetic mutations affecting the HIF pathway were recruited for each main study.
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|Faculty||Department of Physiology Anatomy and Genetics|
|Abstract||Multiple copies of the mitochondrial genome is eukaryotic cells are organized into protein-DNA complexes called nucleoids. Mitochondrial genome repair mechanisms have been reported, but they are less well characterized than their nuclear counterparts. To expand our knowledge of mitochondrial genome maintenance, we have studied the localization of the BRCA1 protein, known to be involved in nuclear repair pathways. Our confocal and immunoelectron m ... [truncated at 450 characters in length]|
|Author||Elisabeth D. Coene; Michael S. Hollinshead; Anouk A. T. Waeytens; et al|
|Faculty||N. Goormaghtigh Institute of Pathology Medical Sciences Division - Pathology N. Goormaghtigh Institute of Pathology N. Goormaghtigh Institute of Pathology Department of Physiology Medical Sciences Division - Pathology Medical Sciences Division - Pathology|