Nature Communications (Aug 2018)
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
- 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
Affiliations
- Julien Baruteau
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Dany P. Perocheau
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Joanna Hanley
- Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London
- Maëlle Lorvellec
- Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London
- Eridan Rocha-Ferreira
- Perinatal Brain Repair Group, Institute for Women’s Health, University College London
- Rajvinder Karda
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Joanne Ng
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Natalie Suff
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Juan Antinao Diaz
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Ahad A. Rahim
- Department of Pharmacology, School of Pharmacy, University College London
- Michael P. Hughes
- Department of Pharmacology, School of Pharmacy, University College London
- Blerida Banushi
- MRC Laboratory for Molecular Cell Biology, University College London
- Helen Prunty
- Department of Paediatric Laboratory Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust
- Mariya Hristova
- Perinatal Brain Repair Group, Institute for Women’s Health, University College London
- Deborah A. Ridout
- Population, Policy and Practice Programme, Great Ormond Street Institute of Child Health, University College London
- Alex Virasami
- Histopathology Department, Great Ormond Street Hospital for Children NHS Foundation Trust
- Simon Heales
- Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London
- Stewen J. Howe
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Suzanne M. K. Buckley
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- Philippa B. Mills
- Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London
- Paul Gissen
- Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust
- Simon N. Waddington
- Gene Transfer Technology Group, Institute for Women’s Health, University College London
- DOI
- https://doi.org/10.1038/s41467-018-05972-1
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 14
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.
