title: NCLs and ER: A stressful relationship.
abstract: 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.
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom; The Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, United Kingdom.
authors.forename: Davide
authors.initials: D
authors.lastname: Marotta
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom. Electronic address: e.tinelli@ucl.ac.uk.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tinelli
authors.affiliation: MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom; Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT; UCL GOS Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.
authors.forename: Sara E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D000818:Animals; D004721:Endoplasmic Reticulum / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D059865:Endoplasmic Reticulum Stress; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D056811:Unfolded Protein Response
keywords: Batten disease; CLN1; CLN3; CLN6; CLN8; ER stress