Journal
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 68, Issue 3, Pages 453-474Publisher
SPRINGER BASEL AG
DOI: 10.1007/s00018-010-0468-6
Keywords
Batten disease; Lysosomal storage disorder
Categories
Funding
- National Institutes of Health (NIH) [GM068411, NIH R01 NS36610, NIH R01 NS43310]
- Batten Disease Support and Research Association
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Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal accumulation of autofluorescent storage material, and result in a disease that causes degeneration of the central nervous system (CNS). Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. Understanding the localization and network of interactions for these proteins can offer clues as to the function of the NCL proteins and also the pathways that will be disrupted in their absence. Here, we present a review of the current understanding of the localization, interactions, and function of the proteins associated with NCL.
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