ArticleHuman molecular genetics2011
The Batten disease gene CLN3 is required for the response to oxidative stress.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 57 citations in OpenAlex.
- The calcium channel blocker diltiazem ameliorates parthanatos in juvenile neuronal ceroid lipofuscinosis.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response.Journal of biomedical science · 2026Article
- TOR-dependent regulation of the yeast homolog of the juvenile Batten Disease-associated geneMicrobial cell (Graz, Austria) · 2026Article
- The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling inFrontiers in cell and developmental biology · 2025Article
- Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.Investigative ophthalmology & visual science · 2024Article
- Exploiting the Potential ofBiomedicines · 2021Review
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.International journal of molecular sciences · 2020Review
- Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.Biochimica et biophysica acta. Molecular basis of disease · 2020Article
- The CLN3 gene and protein: What we know.Molecular genetics & genomic medicine · 2019Review
- Article
- Transcriptome evidence reveals enhanced autophagy-lysosomal function in centenarians.Genome research · 2018Article
- Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.Acta neuropathologica communications · 2017Article
- Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo.Scientific reports · 2017Article
- Pharmacological Effects on Ceroid Lipofuscin and Neuronal Structure in Cln3Journal of molecular neuroscience : MN · 2017Article
- in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels.Neurobiology of disease · 2017Article
- NCLs and ER: A stressful relationship.Biochimica et biophysica acta. Molecular basis of disease · 2017Review
- Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Journal of medicinal chemistry · 2016Review
- Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).Annals of the New York Academy of Sciences · 2016Review
- Fibrates inhibit the apoptosis of Batten disease lymphoblast cells via autophagy recovery and regulation of mitochondrial membrane potential.In vitro cellular & developmental biology. Animal · 2016Article
- Oxidative Stress Related Diseases in Newborns.Oxidative medicine and cellular longevity · 2016Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.