NCLs and ER: A stressful relationship

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1863

Review

Marotta, Davide^1,2  Tinelli, Elisa¹  Mole, Sara E.^1,3,4 

[1] UCL, MRC, Mol Cell Biol Lab, Gower St, London WC1E 6BT, England

[2] Inst Canc Res, 15 Cotswold Rd, London SM2 5NG, England

[3] UCL, Dept Genet Evolut & Environm, Gower St, London WC1E 6BT, England

[4] UCL GOS Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England

关键词: Batten disease;    CLN1;    CLN3;    CLN6;    CLN8;    ER stress;   

DOI  :  10.1016/j.bbadis.2017.04.003

来源: Elsevier

【 摘 要 】

The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments. The endoplasmic reticulum (ER) is a critical organelle for normal cell function. Alteration of ER homeostasis leads to accumulation of misfolded protein in the ER and to activation of the unfolded protein response. ER stress and the UPR have recently been linked to the NCLs. In this review, we will discuss the evidence for UPR activation in the NCLs, and address its connection to disease pathogenesis. Further understanding of ER-stress response involvement in the NCLs may encourage development of novel therapeutical agents targeting these pathogenic pathways.

【 授权许可】

Free