CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide.


Journal Article

Juvenile neuronal ceroid lipofuscinosis or Batten disease (JNCL) is a neurodegenerative disorder characterized by blindness, seizures, cognitive decline and early death. Brain atrophy and retinitis pigmentosa ensue because of neuronal and photoreceptor apoptosis. The CLN3 gene defective in JNCL encodes a novel 438 amino acid protein. Most affected genes harbor a deletion resulting in a truncated protein. CLN3 overexpression in NT2 cells enhances growth, reverses growth inhibition induced by serum starvation and protects from apoptosis induced by vincristine, staurosporine, and etoposide but not from death caused by ceramide. CLN3 modulates endogenous and vincristine-activated ceramide, and therefore suppresses apoptosis by impacting generation of ceramide.

Full Text

Duke Authors

Cited Authors

  • Puranam, KL; Guo, WX; Qian, WH; Nikbakht, K; Boustany, RM

Published Date

  • April 1999

Published In

Volume / Issue

  • 66 / 4

Start / End Page

  • 294 - 308

PubMed ID

  • 10191118

Pubmed Central ID

  • 10191118

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1006/mgme.1999.2834


  • eng

Conference Location

  • United States