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Human Molecular Genetics
Article
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PubMed Central
Other literature type . 2011
License: CC BY NC
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Human Molecular Genetics
Article . 2011 . Peer-reviewed
Data sources: Crossref
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The Batten disease gene CLN3 is required for the response to oxidative stress

Authors: Tuxworth, Richard I.; Chen, Haiyang; Vivancos, Valerie; Carvajal, Nancy; Huang, Xun; Tear, Guy;

The Batten disease gene CLN3 is required for the response to oxidative stress

Abstract

Mutations in the CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early onset neurodegenerative disorder. JNCL is the most common of the NCLs, a group of disorders with infant or childhood onset that are caused by single gene mutations. The NCLs, although relatively rare, share many pathological and clinical similarities with the more common late-onset neurodegenerative disorders, while their simple genetic basis makes them an excellent paradigm. The early onset and rapid disease progression in the NCLs suggests that one or more key cellular processes are severely compromised. To identify the functional pathways compromised in JNCL, we have performed a gain-of-function modifier screen in Drosophila. We find that CLN3 interacts genetically with the core stress signalling pathways and components of stress granules, suggesting a function in stress responses. In support of this, we find that Drosophila lacking CLN3 function are hypersensitive to oxidative stress yet they respond normally to other physiological stresses. Overexpression of CLN3 is sufficient to confer increased resistance to oxidative stress. We find that CLN3 mutant flies perceive conditions of increased oxidative stress correctly but are unable to detoxify reactive oxygen species, suggesting that their ability to respond is compromised. Together, our data suggest that the lack of CLN3 function leads to a failure to manage the response to oxidative stress and this may be the key deficit in JNCL that leads to neuronal degeneration.

Keywords

Male, 570, Membrane Glycoproteins, Transcription, Genetic, Gene Expression Profiling, 610, Articles, Oxidants, Oxidative Stress, Phenotype, Neuronal Ceroid-Lipofuscinoses, Protein Biosynthesis, Mutation, Nerve Degeneration, Animals, Drosophila, Female, Genetic Testing, Reactive Oxygen Species, Protein Binding, Signal Transduction

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
51
Top 10%
Top 10%
Top 10%
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