ArticleJournal of neuroscience research2009
Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.
Article in Journal of neuroscience research, 2009. 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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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in theCells · 2026Article
- Expanded Phenotype of theCells · 2025Article
- Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.CNS neuroscience & therapeutics · 2025Review
- Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.Orphanet journal of rare diseases · 2022Article
- Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.Nature communications · 2022Article
- A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.The Journal of clinical investigation · 2020Article
- Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Dysregulation of CRMP2 Post-Translational Modifications Drive Its Pathological Functions.Molecular neurobiology · 2019Review
- Modulation of CRMP2 via (Neuronal signaling · 2019Article
- Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis.Frontiers in genetics · 2019Article
- Loss ofDisease models & mechanisms · 2017Article
- Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.Orphanet journal of rare diseases · 2016Review
- The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis.Human molecular genetics · 2013Article
- Article
- A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.PloS one · 2013Article
- Opening Pandora's jar: a primer on the putative roles of CRMP2 in a panoply of neurodegenerative, sensory and motor neuron, and central disorders.Future neurology · 2012Article
- Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.American journal of human genetics · 2011Article
- VOLTAGE-GATED CALCIUM CHANNELS ARE NOT AFFECTED BY THE NOVEL ANTI-EPILEPTIC DRUG LACOSAMIDE.Translational neuroscience · 2011Article
- Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.Cellular and molecular life sciences : CMLS · 2011Review
- Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.Human molecular genetics · 2009Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in CLN6 cause variant late-onset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder resulting from aberrant neuronal cell loss and pathological accumulation of lysosomal autofluorescent storage material in the central nervous system. The direct function of the endoplasmic reticulum-resident protein CLN6 and how dysfunction of this protein results in vLINCL are unknown. We report that CLN6 interacts with collapsin response mediator protein-2 (CRMP-2). To further understand the significance and possible contribution to vLINCL of the CLN6-CRMP-2 interaction, we utilized the nclf mouse, which harbors mutations in CLN6. Significantly, CRMP-2 protein level was found to be reduced in the nclf mouse brain, particularly in the thalamus. Because CRMP-2 functions in growth cone collapse and is an effector protein downstream of Sema3A signaling, this pathway was examined via a dorsal root ganglion (DRG) repulsion assay. However, there were no defects in the repulsion of DRGs derived from nclf mice, indicating that the loss of CLN6 does not affect Sema3A signaling. CRMP-2 has also been implicated in controlling axon number and outgrowth, as observed in cultured hippocampal neurons. Therefore, we explored the formation and maturation of hippocampal neurons derived from nclf mice in a glial coculture system. The maturation of these neurons was reduced; by day in vitro (DIV) 8, more than 50% of nclf-derived hippocampal neurons had died. Additionally, beginning around DIV4, nclf neurons were less mature than their WT counterparts, presumably because of an inability to form mature synaptic connections. We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 interaction may contribute to neuronal dysfunction and pathology in vLINCL.
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