ArticleEMBO molecular medicine2022
AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.
Article in EMBO molecular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Standardized Pipeline for Metabolism and Cognition in GO-DS21 Mouse Model: Investigating Down Syndrome Comorbidities.Current protocols · 2026Article
- Genome-wide profiling of RNA 2'-O-methylation in neurons and identification of orphan snoRNA targets.Research square · 2026Article
- Genome-wide profiling of RNA 2'-bioRxiv : the preprint server for biology · 2025Article
- Review
- From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.Biomedicines · 2025Review
- Diacylglycerol Kinases and Its Role in Lipid Metabolism and Related Diseases.International journal of molecular sciences · 2024Review
- Adeno-associated virus vector delivery to the brain: Technology advancements and clinical applications.Advanced drug delivery reviews · 2024Review
- State-of-the-art therapies for fragile X syndrome.Developmental medicine and child neurology · 2024Review
- EZH2 inhibition reactivates epigenetically silencedFrontiers in neuroscience · 2024Article
- Extracellular vesicles derived from CD4Cellular & molecular biology letters · 2023Article
- Mouse models of fragile X-related disorders.Disease models & mechanisms · 2023Review
- Astrocytes in fragile X syndrome.Frontiers in cellular neuroscience · 2023Review
- Gene therapy using human FMRP isoforms driven by the humanMolecular therapy. Methods & clinical development · 2022Article
- Diacylglycerol Kinases in Signal Transduction.International journal of molecular sciences · 2022Article
- AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model.EMBO molecular medicine · 2022Article
- Review
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Authors and funding
11 authors at 2 institutions in 1 country.
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Abstract
Fragile X syndrome (FXS) is the most frequent form of familial intellectual disability. FXS results from the lack of the RNA-binding protein FMRP and is associated with the deregulation of signaling pathways downstream of mGluRI receptors and upstream of mRNA translation. We previously found that diacylglycerol kinase kappa (DGKk), a main mRNA target of FMRP in cortical neurons and a master regulator of lipid signaling, is downregulated in the absence of FMRP in the brain of Fmr1-KO mouse model. Here we show that adeno-associated viral vector delivery of a modified and FMRP-independent form of DGKk corrects abnormal cerebral diacylglycerol/phosphatidic acid homeostasis and FXS-relevant behavioral phenotypes in the Fmr1-KO mouse. Our data suggest that DGKk is an important factor in FXS pathogenesis and provide preclinical proof of concept that its replacement could be a viable therapeutic strategy in FXS.
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