Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase involved in the lysosomal catabolism of heparan sulphate. To understand the pathophysiology of the di...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Martins, Carla, Hůlková, Helena, Dridi, Larbi, Dormoy-Raclet, Virginie, Grigoryeva, Lubov, Choi, Yoo, Langford-Smith, Alexander, Wilkinson, Fiona L., Ohmi, Kazuhiro, DiCristo, Graziella, Hamel, Edith, Ausseil, Jerôme, Cheillan, David, Moreau, Alain, Svobodová, Eva, Hájková, Zuzana, Tesařová, Markéta, Hansíková, Hana, Bigger, Brian W., Hrebícek, Martin, Pshezhetsky, Alexey V.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306821/
https://ncbi.nlm.nih.gov/pubmed/25567323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu355
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