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- W2893502077 abstract "Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism, results from the loss of expression of the Fmr1 gene which encodes the RNA-binding protein FMRP (Fragile X Mental Retardation Protein). Among the thousands mRNA targets of FMRP, numerous encode regulators of ion homeostasis. It has also been described that FMRP directly interacts with Ca2+ channels modulating their activity. Collectively these findings suggest that FMRP plays critical roles in Ca2+ homeostasis during nervous system development. We carried out a functional analysis of Ca2+ regulation using a calcium imaging approach in Fmr1-KO cultured neurons and we show that these cells display impaired steady state Ca2+ concentration and an altered entry of Ca2+ after KCl-triggered depolarization. Consistent with these data, we show that the protein product of the Cacna1a gene, the pore-forming subunit of the Cav2.1 channel, is less expressed at the plasma membrane of Fmr1-KO neurons compared to WT. Thus, our findings point out the critical role that Cav2.1 plays in the altered Ca2+ flux in Fmr1-KO neurons, impacting Ca2+ homeostasis of these cells. Remarkably, we highlight a new phenotype of cultured Fmr1-KO neurons that can be considered a novel cellular biomarker and is amenable to small molecule screening and identification of new drugs to treat FXS." @default.
- W2893502077 created "2018-10-05" @default.
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- W2893502077 date "2018-09-27" @default.
- W2893502077 modified "2023-10-16" @default.
- W2893502077 title "New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons" @default.
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- W2893502077 doi "https://doi.org/10.3389/fnmol.2018.00342" @default.
- W2893502077 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6170614" @default.
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- W2893502077 hasPublicationYear "2018" @default.
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