Browsing Human- und Zahnmedizin by Advisor "Rehling, Peter Prof. Dr."
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Molecular Basis of Mitochondrial Diseases Exemplified by Mutation of the Translation Factor Cox14
(2023-11-07)Mitochondrial oxidative phosphorylation (OXPHOS) fuels cellular ATP demands. OXPHOS defects lead to severe human disorders with unexplained tissue specific pathologies. More and more evidence shows that mitochondrial ... -
Untersuchungen zur molekularen Ursache der Multiplen Sulfatase-Defizienz: Reinigung, Funktions- und Strukturanalyse von varianten Proteinen des Formylglycin-generierenden Enzyms
(2014-12-05)The Multiple sulfatase deficiency (MSD) is an inherited metabolic disease caused by mutations in the SUMF1 gene. The encoded ER-located Cα-formylglycine-generating enzyme (FGE) catalyzes the activation of newly synthesized ...