Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research Network

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1852

Article

Palmer, David N.¹  Neverman, Nicole J.²  Chen, Jarol Z.¹  Chang, Chia-Tien³  Houweling, Peter J.⁴  Barry, Lucy A.¹  Tammen, Imke³  Hughes, Stephanie M.²  Mitchell, Nadia L.¹ 

[1] Lincoln Univ, Fac Agr & Life Sci, Mol Biosci, Lincoln 7647, New Zealand

[2] Univ Otago, Brain Hlth Res Ctr, Otago Sch Med Sci, Dept Biochem, Dunedin 9054, New Zealand

[3] Univ Sydney, Fac Vet Sci, Narellan, NSW 2567, Australia

[4] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia

关键词: Neuronal ceroid lipofuscinoses;    NCLs;    Batten Disease;    CLN5;    CLN6;    Animal models;    Neuroinflammation;    Neurodegeneration;    Gene therapy;    Neural cultures;    Neuroinflammatory pathway;    Disease associated cardiology;   

DOI  :  10.1016/j.bbadis.2015.06.013

来源: Elsevier

【 摘 要 】

Studies on naturally occurring New Zealand and Australian ovine models of the neuronal ceroid-lipofuscinoses (Batten disease, NCLs) have greatly aided our understanding of these diseases. Close collaborations between the New Zealand groups at Lincoln University and the University of Otago, Dunedin, and a group at the University of Sydney, Australia, led to the formation of BARN, the Batten Animal Research Network. This review focusses on presentations at the 14th International Conference on Neuronal Ceroid Lipoffiscinoses (Batten Disease), recent relevant background work, and previews of work in preparation for publication. Themes include CLN5 and CLN6 neuronal cell culture studies, studies on tissues from affected and control animals and whole animal in vivo studies. Topics include the effect of a CLN6 mutation on endoplasmic reticulum proteins, lysosomal function and the interactions of CLN6 with other lysosomal activities and trafficking, scoping gene-based therapies, a molecular dissection of neuroinflammation, identification of differentially expressed genes in brain tissue, an attempted therapy with an anti-inflammatory drug in vivo and work towards gene therapy in ovine models of the NCLs. This article is part of a Special Issue entitled: Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease). (C) 2015 Elsevier B.V. All rights reserved.

【 授权许可】

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