ArticleBMC neuroscience2007
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.
Article in BMC neuroscience, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 31 citations in OpenAlex.
- Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.The Lancet. Neurology · 2014Trial
- Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1.Disease models & mechanisms · 2026Article
- Erdr1 Drives Macrophage Programming via Dynamic Interplay with YAP1 and Mid1.ImmunoHorizons · 2024Article
- Erdr1 orchestrates macrophage polarization and determines cell fate via dynamic interplay with YAP1 and Mid1.bioRxiv : the preprint server for biology · 2023Article
- Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2022Review
- Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression.Journal of neuroinflammation · 2021Article
- [Neuroinflammation in neuronal ceroid lipofuscinosis].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2021Review
- Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon inG3 (Bethesda, Md.) · 2020Article
- High accuracy gene expression profiling of sorted cell subpopulations from breast cancer PDX model tissue.PloS one · 2020Article
- Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome.Molecular & cellular proteomics : MCP · 2019Article
- Synergistic effects of treating the spinal cord and brain in CLN1 disease.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.Orphanet journal of rare diseases · 2016Review
- Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.Molecular genetics and metabolism · 2015Article
- An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).PloS one · 2014Article
- Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).Journal of child neurology · 2013Article
- The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Article
- Correlation analysis between genome-wide expression profiles and cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.Molecular psychiatry · 2010Article
- Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.Human molecular genetics · 2009Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical degeneration with blindness and cognitive and motor dysfunction. The PPT1-deficient knockout mouse recapitulates the key features of the disorder, including seizures and death by 7-9 months of age. In the current study, we compared gene expression profiles of whole brain from PPT1 knockout and normal mice at 3, 5 and 8 months of age to identify temporal changes in molecular pathways implicated in disease pathogenesis.
resultsA total of 267 genes were significantly (approximately 2-fold) up- or downregulated over the course of the disease. Immediate early genes (Arc, Cyr61, c-fos, jun-b, btg2, NR4A1) were among the first genes upregulated during the presymptomatic period whereas immune response genes dominated at later time points. Chemokine ligands and protease inhibitors were among the most transcriptionally responsive genes. Neuronal survival factors (IGF-1 and CNTF) and a negative regulator of neuronal apoptosis (DAP kinase-1) were upregulated late in the course of the disease. Few genes were downregulated; these included the alpha2 subunit of the GABA-A receptor, a component of cortical and hippocampal neurons, and Hes5, a transcription factor important in neuronal differentiation.
conclusionA molecular description of gene expression changes occurring in the brain throughout the course of neuronal ceroid lipofuscinosis suggests distinct phases of disease progression, provides clues to potential markers of disease activity, and points to new targets for therapy.
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