Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
Julien Baruteau, Dany P. Perocheau, Joanna Hanley and 19 more
Nature Communications · 2018
doi:10.1038/s41467-018-05972-1 (opens in a new tab)
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Abstract
Patients with mutations in the ASL gene present with argininosuccinic aciduria characterised by hyperammonaemia and cognitive impairment. Here, the authors show that cerebral disease involves neuronal nitrosative/oxidative stress that is not induced by hyperammonaemia, and that it can be reversed using AAV-ASL directed to liver and brain in mice.
Abstract licence: CC BY-NC-ND
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