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  • 2000-2004  (1)
  • 1970-1974  (2)
  • Organic Chemistry  (2)
  • Homology modeling  (1)
  • Protective protein / cathepsin A  (1)
  • 1
    ISSN: 1435-232X
    Keywords: Key words Sialidosis ; Lysosomal neuraminidase ; Homology modeling ; Protective protein / cathepsin A
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract To gain insight into the pathogenesis of sialidosis type 1, we performed molecular investigations of two unrelated Japanese patients. Both of them are compound heterozygotes for base substitutions of 649G-to-A and 727G-to-A, which result in amino acid alterations V217M and G243R, respectively. Using homology modeling, the structure of human lysosomal neuraminidase was constructed and the structural changes caused by these missense mutations were deduced. The predicted change due to V217M was smaller than that caused by G243R, the latter resulting in a drastic, widespread alteration. The overexpressed gene products containing these mutations had the same molecular weight as that of the wild type, although the amounts of the products were moderately decreased. A biochemical study demonstrated that the expressed neuraminidase containing a V217M mutation was partly transported to lysosomes and showed residual enzyme activity, although a G243R mutant was retained in the endoplasmic reticulum/Golgi area and had completely lost the enzyme activity. Considering the data, we surmise that the V217M substitution may be closely associated with the phenotype of sialidosis type 1 with a late onset and moderate clinical course.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    New York, NY : Wiley-Blackwell
    Helvetica Chimica Acta 54 (1971), S. 1081-1083 
    ISSN: 0018-019X
    Keywords: Chemistry ; Organic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: The unusual electronic spectrum of the title compound is shown to be due to the strong interaction between the π-orbitals of the double bonds and the Walsh-orbitals of the fourmembered ring.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0018-019X
    Keywords: Chemistry ; Organic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: The bands with Iv 〈 13 eV in the photoelectron spectra of quinoline (IX), isoquinoline (X), cinnoline (XI), quinazoline (XII), and quinoxaline (XIII) have been reassigned in a way consistent with the assignment proposed for pyridine (II), the diazines (III, IV, V), s-triazine (VI), and 1,2,4,5-tetrazine (VII). The bands corresponding to the ejection of an electron from a π-orbital have been identified by a regression calculation based on a HMO perturbation treatment. It has been found that the combined through-space and through-bond interaction of the lone pairs in III, IV, V and in their corresponding benzologues XI, XII, XIII are the same within experimental error ( ±, 0.2 eV). Our assignment is also supported by an empirical correlation of the pKa, 1- values and the mean lone-pair ionization potentials of the azaderivatives I to XIII.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
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