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101.
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Hélène Hanaire MD Sylvia Franc MD Sophie Borot PhD Alfred Penfornis PhD Pierre-Yves Benhamou PhD Pauline Schaepelynck MD Eric Renard PhD Bruno Guerci PhD Nathalie Jeandidier PhD Chantal Simon PhD Patrick Hannaert PhD Ilham Xhaard PhD Maeva Doron PhD Erik Huneker PhD Guillaume Charpentier MD Yves Reznik PhD 《Diabetes, obesity & metabolism》2020,22(3):324-334
104.
Karpagam S Premdas E Vasan A Dabade G Kilaru A Bheemappa O 《Lancet》2012,379(9822):1195-6; author reply 1196; discussion 1196
105.
Engel K Vuissoz JM Eggimann S Groux M Berning C Hu L Klaus V Moeslinger D Mercimek-Mahmutoglu S Stöckler S Wermuth B Häberle J Nuoffer JM 《Journal of inherited metabolic disease》2012,35(1):133-140
Background
The urea cycle defect argininosuccinate lyase (ASL) deficiency has a large spectrum of presentations from highly severe to asymptomatic. Enzyme activity assays in red blood cells or fibroblasts, although diagnostic of the deficiency, fail to discriminate between severe, mild or asymptomatic cases. Mutation/phenotype correlation studies are needed to characterize the effects of individual mutations on the activity of the enzyme.Methods
Bacterial in-vitro expression studies allowed the enzyme analysis of purified mutant ASL proteins p.I100T (c.299?T?>?C), p.V178M (c.532?G?>?A), p.E189G (c.566A?>?G), p.Q286R (c.857A?>?G), p.K315E (c.943A?>?G), p.R379C (c.1135?C?>?T) and p.R385C (c.1153?C?>?T) in comparison to the wildtype protein.Results
In the bacterial in-vitro expression system, ASL wild-type protein was successfully expressed. The known classical p.Q286R, the novel classical p.K315E and the known mutations p.I100T, p.E189G and p.R385C, which all have been linked to a mild phenotype, showed no significant residual activity. There was some enzyme activity detected with the p.V178M (5 % of wild-type) and p.R379C (10 % of wild-type) mutations in which Km values for argininosuccinic acid differed significantly from the wild-type ASL protein.Conclusion
The bacterially expressed enzymes proved that the mutations found in patients and studied here indeed are detrimental. However, as in the case of red cell ASL activity assays, some mutations found in genetically homozygous patients with mild presentations resulted in virtual loss of enzyme activity in the bacterial system, suggesting a more protective environment for the mutant enzyme in the liver than in the heterologous expression system and/or in the highly dilute assays utilized here. 相似文献106.
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A Bacigalupo V Segovia A García C Botto-Mahan S Ortiz A Solari M Acuna-Retamar F Torres-Pérez PE Cattan 《The American journal of tropical medicine and hygiene》2012,87(3):473-480
Abstract. In Chile, the main vector of Chagas disease, Triatoma infestans, is under control after insecticide spraying. However, it has been found colonizing wild habitats. This study evaluated Trypanosoma cruzi infection of sylvatic and domiciliary T. infestans and identified their parasite genotypes. The sample studied was composed mainly of T. infestans sylvatic nymphs and domiciliary adults from a semi-urban area with human dwellings under vector control surveillance. Results showed prevalences of 57.7% in nymphs and 68.6% in adults. Hybridization tests showed a major T. cruzi lineage (TcI) circulating in sylvatic (93.3%) and domiciliary (100%) T. infestans. TcII, TcV, and TcVI were also detected, mainly in nymphs, suggesting differential adaptation of T. cruzi lineages among instars. We also discuss the origin of domiciliary individuals of T. infestans and the risk of human infection by triatomines of sylvatic foci that invade houses despite vector control programs. 相似文献
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Gregor K Wenning Felix Geser Florian Krismer Klaus Seppi Susanne Duerr Sylvia Boesch Martin Köllensperger Georg Goebel Karl P Pfeiffer Paolo Barone Maria Teresa Pellecchia Niall P Quinn Vasiliki Koukouni Clare J Fowler Anette Schrag Christopher J Mathias Nir Giladi Tanya Gurevich Werner Poewe 《Lancet neurology》2013,12(3):264-274