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Träfflista för sökning "WFRF:(Watanabe Tetsuya) srt2:(2010-2014)"

Sökning: WFRF:(Watanabe Tetsuya) > (2010-2014)

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1.
  • Hama, Tetsuya, et al. (författare)
  • A desorption mechanism of water following vacuum-ultraviolet irradiation on amorphous solid water at 90 K
  • 2010
  • Ingår i: JOURNAL OF CHEMICAL PHYSICS. - 0021-9606. ; 132:16
  • Tidskriftsartikel (refereegranskat)abstract
    • Following 157 nm photoexcitation of amorphous solid water and polycrystalline water ice, photodesorbed water molecules (H2O and D2O), in the ground vibrational state, have been observed using resonance-enhanced multiphoton ionization detection methods. Time-of-flight and rotationally resolved spectra of the photodesorbed water molecules were measured, and the kinetic and internal energy distributions were obtained. The measured energy distributions are in good accord with those predicted by classical molecular dynamics calculations for the kick-out mechanism of a water molecule from the ice surface by a hot hydrogen (deuterium) atom formed by photodissociation of a neighboring water molecule. Desorption of D2O following 193 nm photoirradiation of a D2O/H2S mixed ice was also investigated to provide further direct evidence for the operation of a kick-out mechanism.
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2.
  • Nakajima, Yoko, et al. (författare)
  • Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
  • 2014
  • Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 37:5, s. 801-812
  • Tidskriftsartikel (refereegranskat)abstract
    • beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities.
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