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Browsing by Subject "cysteine"

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    • Article  

      Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease 

      Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)
      Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...

    • Article  

      Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis 

      Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...

    • Article  

      Inactivation of the glutamine/amino acid transporter ASCT2 by 1,2,3-dithiazoles: Proteoliposomes as a tool to gain insights in the molecular mechanism of action and of antitumor activity 

      Oppedisano, F.; Catto, M.; Koutentis, Panayiotis Andreas; Nicolotti, O.; Pochini, L.; Koyioni, Maria G.; Introcaso, A.; Michaelidou, Sophia S.; Carotti, A.; Indiveri, C. (2012)
      The ASCT2 transport system catalyses a sodium-dependent antiport of glutamine and other neutral amino acids which is involved in amino acid metabolism. A library of 1,2,3-dithiazoles was designed, synthesized and evaluated ...

    • Article  

      A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the α1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen 

      Constantinou-Deltas, Constantinos D.; Nielsen, K. B.; Prockop, D. J. (1989)
      A fraction of the proα1(I) and proα2(I) chains in type I procollagen synthesized by the fibroblasts from a proband with a lethal variant of osteogenesis imperfecta were overmodified by posttranslational reactions. After ...

    • Article  

      Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1) 

      Constantinou-Deltas, Constantinos D.; Pack, M. A.; Young, S. B.; Prockop, D. J. (1990)
      A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for α1-glycine 904 to a codon ...

    • Article  

      Probing the nitrite and nitric oxide reductase activity of cbb3 oxidase: Resonance Raman detection of a six-coordinate ferrous heme-nitrosyl species in the binuclear b3/CuB center 

      Loullis, Andreas; Pinakoulaki, Eftychia (2015)
      In this work we report the first spectroscopic evidence demonstrating that cbb3 oxidase catalyzes the reduction of nitrite to nitrous oxide under reducing anaerobic conditions. The reaction proceeds through the formation ...

    • Article  

      The structure of a ferrous heme-nitro species in the binuclear heme a3/CuB center of ba3-cytochrome c oxidase as determined by resonance Raman spectroscopy 

      Loullis, Andreas; Noor, M. R.; Soulimane, T.; Pinakoulaki, Eftychia (2015)
      Members of the cytochrome c oxidase family exhibit nitrite reductase activity. In this work, we have characterized a ferrous heme a3-nitro species in ba3-oxidase by resonance Raman spectroscopy. This provides the first ...

    • Article  

      Substitution of cysteine for glycine-α1-691 in the proα1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution 

      Steinmann, B.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Superti-Furga, A.; Prockop, D. J. (1991)
      Skin fibroblast from a proband with lethal osteogenesis imperfecta synthesized a type I procollagen containing a cysteine residue in the α1(I) helical domain. Assay of thermal stability of the triple helix by proteinase ...

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