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  • 1
    Electronic Resource
    Electronic Resource
    Lacticacidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 98-101 
    Details
    ISSN: 1432-1076
    Keywords: Lacticacidosis ; Neurological deterioration ; Redox disequilibrium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients, one dying at 25 days and one at 20 months had ‘chronic’ lactic acidaemia with a high lactate to pyruvate ratio. Both showed EEG abnormalities and seizure activity and both died of respiratory failure. Investigation of cultured skin fibroblasts from these patients revealed normal pyruyate dehydrogenase and pyruvate carboxylase activities but the cells showed a decreased ability to oxidise pyruvate which was returned to normal on the addition of methylene blue. Subsequent investigations revealed that the mitochondria from the patients' cells could oxidise pyruvate normally but that the cells had an abnormal NAD to NADH ratio under standard conditions of incubation. It was concluded that both children had a redox disequilibrium in the cytoplasmic compartment due to a problem in transporting reducing equivalents from the cytoplasmic to the mitochondrial compartments.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441651
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Mammalian Urea Cycle Enzymes (1986)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Genetics 20 (1986), S. 431-464 
    Details
    ISSN: 0066-4197
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.ge.20.120186.002243
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 263-267 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A cloned cDNA for α-1-antitrypsin (α-1-AT) was selected from a human liver cDNA library. The identity of the clone was established by hybrid-selected translation and partial DNA sequencing. The cDNA was used as a probe to search for restriction site polymorphisms (RSPs) near the α-1-AT gene. Only two RSPs were found using 29 different restriction enzymes. Each of these polymorphisms resulted from the loss of a restriction site, one for EcoRI and the other for Taq I. The frequency of polymorphic restriction was calculated to be 1.1% to 2.6% of all sites tested, a figure lower than the 9.3% value observed for 12 RSPs in the human β-globin gene cluster. Since the corresponding figure for detectable polymorphisms at the α-1-AT locus at the protein level is 12%, restriction enzymes are comparatively inefficient in detecting genetic variability. The basis of this inefficiency was studied by computing the nucleotide diversity from the RSP data. On the average, one in 500 to 1000 bases is polymorphic around the α-1-At locus. This value is comparable to that which we have calculated for the human β-globin gene cluster and the human growth hormone gene cluster (both one in 500). These data demonstrate the limited usefulness of linked RSPs for genetic linkage studies at the α-1-AT locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293037
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Evaluation of gene therapy for citrullinaemia using murine and bovine models (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 138-150 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Citrullinaemia is an autosomal recessive disorder caused by the deficiency of argininosuccinate synthase. The deficiency of this enzyme results in an interruption in the urea cycle and the inability to dispose of excess ammonia derived from the metabolism of protein. The only treatment for this disorder has been dietary restriction of protein and supplementation with medications allowing for alternative excretion of excess nitrogen. Gene therapy offers the possibility of a long-term cure for disorders like citrullinaemia by expressing the deficient gene in the target organ. We have explored the use of adenoviral vectors as a treatment modality for citrullinaemia in two animal models, a naturally occurring bovine model and a murine model created by molecular mutagenesis. Mice treated with adenoviral vectors expressing argininosuccinate synthase lived significantly longer than untreated animals (11 days vs 1 day); however, the animals did not exhibit normal weight gain during the experiment, indicating that the therapeutic effectiveness of the transducing virus was suboptimal. It is speculated that part of the failure to observe better clinical outcome might be due to the deficiency of arginine. In the bovine model, the use of adenoviral vectors did not result in any change in the clinical condition of the animals or in the level of plasma ammonia. However, the use of 15N isotopic ammonia allowed us to assess the flux of nitrogen through the urea cycle during the experiment. These studies revealed a significant increase in the flux through the urea cycle following administration of adenoviral vectors expressing argininosuccinate synthase. We conclude that the use of adenoviral vectors in the treatment of citrullinaemia is a viable approach to therapy but that it will be necessary to increase the level of transduction and to increase the level of enzyme produced from the recombinant viral vector. Future experiments will be designed to address these issues.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005322010854
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    Paper (German National Licenses)
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