Article
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
Acta neuropathologica - 1 Jan 2018
von Jonquieres Georg, Spencer Ziggy H T, Rowlands Benjamin D, Klugmann Claudia B, Bongers Andre, Harasta Anne E, Parley Kristina E, Cederholm Jennie, Teahan Orla, Pickford Russell, Delerue Fabien, Ittner Lars M, Fröhlich Dominik, McLean Catriona A, Don Anthony S, Schneider Miriam, Housley Gary D, Rae Caroline D, Klugmann Matthias
Abstract excerpt
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease-a fatal neurometabolic disorder caused by deficiency in the NAA-degrading enzyme aspartoacylase. To date clinical outcome of gene replacement therapy for this spongiform...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.