The neuronal ceroid lipofuscinoses: Opportunities from model systems

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1852

Review

Faller, Kiterie M. E.¹  Gutierrez-Quintana, Rodrigo¹  Mohammed, Alamin³  Rahim, Ahad A.²  Tuxworth, Richard I.³  Wager, Kim⁴  Bond, Michael⁵ 

[1] Coll Vet Med & Life Sci, Sch Vet Med, Glasgow G61 1QH, Lanark, Scotland

[2] UCL Sch Pharm, London WC1N 1AX, England

[3] Univ Birmingham, Coll Med & Dent Sci, Birmingham B15 2TT, W Midlands, England

[4] Cardiff Univ, Cardiff Sch Biosci, Cardiff CF10 3AX, S Glam, Wales

[5] UCL, MRC Lab Mol Cell Biol, London WC1E 6BT, England

关键词: Neuronal ceroid lipofuscinosis;    NCL;    Neurodegeneration;    Model systems;   

DOI  :  10.1016/j.bbadis.2015.04.022

来源: Elsevier

【 摘 要 】

The neuronal ceroid lipofuscinoses are a group of severe and progressive neurodegenerative disorders, generally with childhood onset. Despite the fact that these diseases remain fatal, significant breakthroughs have been made in our understanding of the genetics that underpin these conditions. This understanding has allowed the development of a broad range of models to study disease processes, and to develop new therapeutic approaches. Such models have contributed significantly to our knowledge of these conditions. In this review we will focus on the advantages of each individual model, describe some of the contributions the models have made to our understanding of the broader disease biology and highlight new techniques and approaches relevant to the study and potential treatment of the neuronal ceroid lipofuscinoses. 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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