FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm
by Suna Jung, Sneha Shah, Geongoo Han, Joel D. Richter
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled inFmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that inFmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral tissues. To assess molecular mechanisms of splicing mis-regulation, we employed N2A cells depleted ofFmr1. In the absence of FMRP, RNA-specific exon skipping events are linked to the splicing factors hnRNPF, PTBP1, and MBNL1. FMRP regulates the translation ofMbnl1 mRNA as well asMbnl1 RNA auto-splicing. ElevatedMbnl1 au...
Source: PLoS Biology: Archived Table of Contents - December 4, 2023 Category: Biology Authors: Suna Jung Source Type: research
EE705 The Healthcare Resource Utilisation and Associated Costs for Patients with Newly Diagnosed Fragile X Syndrome
Fragile X Syndrome (FXS) is a congenital condition that impacts cognition. We aimed to describe healthcare resource utilisation and costs for newly diagnosed FXS patients. (Source: Value in Health)
Source: Value in Health - December 1, 2023 Category: International Medicine & Public Health Authors: L. Bitchell, C. Morgan, B. Jones, A. McKechanie, A. Stanfield, A. Cooper, P. Conway Source Type: research
Genes, Vol. 14, Pages 2157: Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
We describe a three-generation family with non-syndromic neuropsychiatric features segregating with a novel 19q13.32q13.33 microduplication. The propositus was a 28-month-old male ascertained for psychomotor delay, with no dysmorphic features or malformations. His mother had Attention-Deficit/Hyperactivity Disorder and a learning disability. The maternal uncle had an intellectual disability. Chromosomal microarray analysis identified a 969 kb 19q13.32q13.33 microduplication in the proband. The variant segregated in the mother, the uncle, and the maternal grandmother of the proband, who also presented neuropsychiatric disor...
Source: Genes - November 29, 2023 Category: Genetics & Stem Cells Authors: Daniele Guadagnolo Gioia Mastromoro Barbara Torres Enrica Marchionni Francesca di Palma Marina Goldoni Dario Cocciadiferro Antonio Novelli Laura Bernardini Antonio Pizzuti Tags: Case Report Source Type: research
Developmental Impairments of Synaptic Refinement in the Thalamus of a Mouse Model of Fragile X Syndrome
AbstractWhile somatosensory over-reactivity is a common feature of autism spectrum disorders such as fragile X syndrome (FXS), the thalamic mechanisms underlying this remain unclear. Here, we found that the developmental elimination of synapses formed between the principal nucleus of V (PrV) and the ventral posterior medial nucleus (VPm) of the somatosensory system was delayed in fragile X mental retardation 1 gene knockout (Fmr1 KO) mice, while the developmental strengthening of these synapses was disrupted. Immunohistochemistry showed excessive VGluT2 puncta in mutants at P12 –13, but not at P7–8 or P15–16, confirm...
Source: Neuroscience Bulletin - November 28, 2023 Category: Neuroscience Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
Hippocampal Upregulation of Complement Component C3 in Response to Lipopolysaccharide Stimuli in a Model of Fragile-X Syndrome
Curr Issues Mol Biol. 2023 Nov 18;45(11):9306-9315. doi: 10.3390/cimb45110582.ABSTRACTThe complement system is part of the innate immune system and has been shown to be altered in autism spectrum disorder (ASD). Fragile-X syndrome (FXS) is the main genetic cause of ASD and studies suggest a dysregulation in the immune system in patients with the disorder. To assess if an animal model of FXS presents with altered complement signaling, we treated male Fmr1 knockout (KO) mice with lipopolysaccharide (LPS) and collected the hippocampus 24 h later. Assessment of the expression of the complement genes C1q, C3, and C4 identified ...
Source: Current Issues in Molecular Biology - November 24, 2023 Category: Molecular Biology Authors: Danielle Santana-Coelho Joaquin N Lugo Source Type: research
