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  • 1
    Electronic Resource
    Electronic Resource
    Inhibition of in vitro RNA synthesis by hycanthone, oxamniquine and praziquantel (1990)
    Springer
    Cellular and molecular life sciences 46 (1990), S. 461-464 
    Details
    ISSN: 1420-9071
    Keywords: Schistosomicides ; hycanthone ; oxamniquine ; praziquantel ; RNA synthesis ; drug resistance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The schistosomicides, hycanthone, oxamniquine and praziquantel, were found to inhibit the in vitro RNA synthesis using isolated hamster liver nuclei. Preincubation of the nuclei with these drugs revealed that the inhibitory effect of oxamniquine was irreversible and progressed with time, whereas that of hycanthone and parziquantel was reversible. On the other hand, hycanthone and praziquantel have a high affinity for DNA but oxamniquine does not. The data indicate that the mechanism of inhibition by oxamniquine is different from that of hycanthone and praziquantel.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954230
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 562-564 
    Details
    ISSN: 1432-1076
    Keywords: Key words Valproate ; Mitochondrial encephalomyopathy ; MELAS syndrome ; Mitochondrial mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) was subsequently diagnosed and a nucleotide 3243 A→G mutation was detected in the mitochondrial DNA. This mutation predisposes the patient to the detrimental effects of valproate on oxidative phosphorylation. Conclusion We support the suggestion of Ponchaut et al. [14] that valproate should not be given to patients suspected of having mitochondrial diseases. In addition, for patients whose seizures worsen with valproate therapy, an inborn error of mitochondrial metabolism should be suspected. The underlying mitochondrial DNA defects should be sought for family screening and genetic counselling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050663
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  • 3
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 643-647 
    Details
    ISSN: 1432-1076
    Keywords: Key words Addison disease ; Kearns Sayre syndrome ; Mitochondrial DNA deletion ; Heteroplasmy analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Kearns Sayre syndrome (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular myopathy, pigmentary retinopathy, heart block and ataxia. Endocrinopathies are common in KSS, including growth hormone deficiency, hypogonadism, diabetes mellitus and hypoparathyroidism.  A variety of deletions of mitochondrial DNA (mtDNA) are found in most cases. We report on a 5-year-old boy with Addison disease in whom further investigation revealed a 4.9 kilobase mtDNA deletion and KSS. Later he developed severe lactic acidosis and expired. Conclusion The degree of mutant mtDNA heteroplasmy in various tissues on autopsy did not correlate well with the clinical manifestations, although this may be due at least in part to replacement with other tissue types. Our report is the first of non-autoimmune Addison disease in KSS and patients with KSS should be evaluated for adrenal insufficiency. Early recognition of adrenal insufficiency is crucial to prevent mortality from this cause.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050902
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  • 4
    Electronic Resource
    Electronic Resource
    Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 199-203 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Recent studies have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6-phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified. Thus, informative polymorphic markers are necessary for linkage analysis in carrier testing and prenatal diagnosis in families where mutations can not be identified. The common mutations appear to be ethnic-specific, suggesting that the individual mutations may have a common founder. With the recent discovery of the nucleotide 1176 polymorphism, we have studied whether these mutations are in linkage disequilibrium with the polymorphism. The results of polymerase chain reaction/allele-specific oligonucleotide analysis show that nucleotide 1176 C is in linkage disequilibrium with mutations R83 C and R83H, and with the splicing mutation 727G→T. The 1176 T polymorphism is in linkage disequilibrium with 459insTA. A GT repeat polymorphism has also been found. However, its heterozygosity is low. The 1176 nucleotide polymorphic marker can be used in carrier and prenatal diagnosis of GSD1a families that have unidentified mutations and are informative for this marker.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050807
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  • 5
    Electronic Resource
    Electronic Resource
    Novel nucleotide substitutions in mitochondrial DNA (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 871-873 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005483005095
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    Paper (German National Licenses)
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