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Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

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Abstract

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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Acknowledgements

The authors wish to acknowledge their sources of funding: National Institutes of Health (NIH) Institutional Ruth L. Kirschstein National Research Service Award [GM068411] (A.L.G), NIH R01 NS36610, NIH R01 NS43310 and the Batten Disease Support and Research Association.

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  1. Sanford Children’s Health Research Center, Sanford Research USD, Sanford School of Medicine of the University of South Dakota, 2301 East 60th Street North, Sioux Falls, SD, 57104-0589, USA

    Amanda L. Getty & David A. Pearce

  2. Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY, 14642, USA

    Amanda L. Getty

  3. Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, 57117, USA

    David A. Pearce

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  1. Amanda L. Getty
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  2. David A. Pearce
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Correspondence to David A. Pearce.

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Getty, A.L., Pearce, D.A. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell. Mol. Life Sci. 68, 453–474 (2011). https://doi.org/10.1007/s00018-010-0468-6

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  • DOI: https://doi.org/10.1007/s00018-010-0468-6

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