Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1832, Issue 11, Pages 1866-1881Publisher
ELSEVIER
DOI: 10.1016/j.bbadis.2013.01.019
Keywords
Lysosome; Neurodegeneration; Lysosomai storage disorder; Mannose 6-phosphate; CSP alpha; Progranulin
Funding
- Deutsche Forschungsgemeinschaft [FOR855]
- Finnish Academy of Science [128600]
- European Union [281234]
- Academy of Finland (AKA) [128600, 128600] Funding Source: Academy of Finland (AKA)
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Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders with variable age of onset, characterized by lysosomal accumulation of autofluorescent ceroid lipopigments, neuroinflammation, photoreceptor- and neurodegeneration. Most of the NCL-related genes encode soluble and transmembrane proteins which localize to the endoplasmic reticulum or to the endosomal/lysosomal compartment and directly or indirectly regulate lysosomal function. Recently, exome sequencing led to the identification of four novel gene defects in NCL patients and a new NCL nomenclature currently comprising CLN1 through CLN14. Although the precise function of most of the NCL proteins remains elusive, comprehensive analyses of model organisms, particularly mouse models, provided new insight into pathogenic mechanisms of NCL diseases and roles of mutant NCL proteins in cellular/subcellular protein and lipid homeostasis, as well as their adaptive/compensatorial regulation at the transcriptional level. This review summarizes the current knowledge on the expression, function and regulation of NCL proteins and their impact on lysosomal integrity. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. (C) 2013 Elsevier B.V. All rights reserved.
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