Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

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 us...

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Bibliografische Detailangaben
Hauptverfasser:	Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Nature Portfolio 2018-08-01
Schriftenreihe:	Nature Communications
Online-Zugang:	https://doi.org/10.1038/s41467-018-05972-1
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Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

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