196,279 research outputs found
Christianizing Barbarian Kingdoms: Queens and Conversion to Catholicism (476-604)
No full textSedi accademiche dei diversi autori:
K. E. Børresen,T. Karlesen Seim, K. Vogt: Univ. Oslo
E. Prinzivalli, B. Scarcia Amoretti: Roma la Sapienza
J. Herrin: King's College London Univ.
F.E. Consolino: Univ. L'Aquila
M. Marin: Madrid
E. Mundal: Bergen
E.M. Synek: Wie
Diseases caused by mutations in mitochondrial carrier genes SLC25: A review
No full textIn the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these diseases are due to defects of mitochondrial carriers, a family of proteins named solute carrier family 25 (SLC25), that transport a variety of solutes such as the reagents of ATP synthase (ATP, ADP, and phosphate), tricarboxylic acid cycle intermediates, cofactors, amino acids, and carnitine esters of fatty acids. The disease-causing mutations disclosed in mitochondrial carriers range from point mutations, which are often localized in the substrate translocation pore of the carrier, to large deletions and insertions. The biochemical consequences of deficient transport are the compartmentalized accumulation of the substrates and dysfunctional mitochondrial and cellular metabolism, which frequently develop into various forms of myopathy, encephalopathy, or neuropathy. Examples of diseases, due to mitochondrial carrier mutations are: combined D-2-and L-2-hydroxyglutaric aciduria, carnitine-acylcarnitine carrier deficiency, hyperornithinemia-hyperammonemia-homocitrillinuria (HHH) syndrome, early infantile epileptic encephalopathy type 3, Amish microcephaly, aspartate/glutamate isoform 1 deficiency, congenital sideroblastic anemia, Fontaine progeroid syndrome, and citrullinemia type II. Here, we review all the mitochondrial carrier-related diseases known until now, focusing on the connections between the molecular basis, altered metabolism, and phenotypes of these inherited disorders
Tumor cell uptake of the metastasis inhibitor ruthenium complex NAMI-A and its in vitro effects on KB cells
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“Imprinting Structural Information from a GpG Ligand into the configuration of a Chiral Diamine Ligand through Second-Sphere Communication in Platinum(II) Complexes
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