Molecular Autism
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Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment
Molecular Autism - Tập 11 - Trang 1-11 - 2020
FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number of neuronal mRNAs. Absence of FMRP has been shown to lead to elevated protein synthesis and is thought to be a major cause of the synaptic plasticity and behavioural deficits in FXS. The incre...... hiện toàn bộ
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
Molecular Autism - Tập 9 - Trang 1-19 - 2018
Angelman syndrome (AS) is a neurodevelopmental disorder caused by mutations affecting UBE3A function. AS is characterized by intellectual disability, impaired motor coordination, epilepsy, and behavioral abnormalities including autism spectrum disorder features. The development of treatments for AS heavily relies on the ability to test the efficacy of drugs in mouse models that show reliable, and ...... hiện toàn bộ
RNA sequencing of identical twins discordant for autism reveals blood-based signatures implicating immune and transcriptional dysregulation
Molecular Autism - Tập 10 - Trang 1-15 - 2019
A gap exists in our mechanistic understanding of how genetic and environmental risk factors converge at the molecular level to result in the emergence of autism symptoms. We compared blood-based gene expression signatures in identical twins concordant and discordant for autism spectrum condition (ASC) to differentiate genetic and environmentally driven transcription differences, and establish conv...... hiện toàn bộ
Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
Molecular Autism - Tập 11 - Trang 1-15 - 2020
Chromodomain helicase DNA-binding protein 8 (Chd8) is a high-confidence risk gene for autism spectrum disorder (ASD). However, how Chd8 haploinsufficiency impairs gene expression in the brain and impacts behavior at different stages of life is unknown. We generated a mutant mouse line with an ASD-linked loss-of-function mutation in Chd8 (V986*; stop codon mutation). We examined the behavior of Chd...... hiện toàn bộ
Children with autism spectrum disorder produce more ambiguous and less socially meaningful facial expressions: an experimental study using random forest classifiers
Molecular Autism - Tập 11 - Trang 1-14 - 2020
Computer vision combined with human annotation could offer a novel method for exploring facial expression (FE) dynamics in children with autism spectrum disorder (ASD). We recruited 157 children with typical development (TD) and 36 children with ASD in Paris and Nice to perform two experimental tasks to produce FEs with emotional valence. FEs were explored by judging ratings and by random forest (...... hiện toàn bộ
Sociability deficits after prenatal exposure to valproic acid are rescued by early social enrichment
Molecular Autism - - 2018
Autism spectrum disorder (ASD) is characterized by impaired social interactions and repetitive patterns of behavior. Symptoms appear in early life and persist throughout adulthood. Early social stimulation can help reverse some of the symptoms, but the biological mechanisms of these therapies are unknown. By analyzing the effects of early social stimulation on ASD-related behavior in the mouse, we...... hiện toàn bộ
CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons
Molecular Autism - Tập 7 - Trang 1-13 - 2016
Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5′ untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in differentiated cells thus resulting in the loss of FMRP, a protein important for learning and memory. The timing of ...... hiện toàn bộ
Serotonergic innervation of the amygdala is increased in autism spectrum disorder and decreased in Williams syndromeAbstract
Background
Williams syndrome (WS) and autism spectrum disorder (ASD) are neurodevelopmental disorders that demonstrate overlapping genetic associations, dichotomous sociobehavioral phenotypes, and dichotomous pathological differences in neuronal distribution in key social brain areas, inclu... ... hiện toàn bộ
Molecular Autism - Tập 11 Số 1 - 2020
The within-subject application of diffusion tensor MRI and CLARITY reveals brain structural changes in Nrxn2 deletion mice
Molecular Autism - Tập 10 - Trang 1-13 - 2019
Of the many genetic mutations known to increase the risk of autism spectrum disorder, a large proportion cluster upon synaptic proteins. One such family of presynaptic proteins are the neurexins (NRXN), and recent genetic and mouse evidence has suggested a causative role for NRXN2 in generating altered social behaviours. Autism has been conceptualised as a disorder of atypical connectivity, yet ho...... hiện toàn bộ
Oxytocin impacts top-down and bottom-up social perception in adolescents with ASD: a MEG study of neural connectivity
Molecular Autism - Tập 13 - Trang 1-12 - 2022
In the last decade, accumulative evidence has shown that oxytocin can modulate social perception in typically developed individuals and individuals diagnosed with autism. While several studies show that oxytocin (OT) modulates neural activation in social-related neural regions, the mechanism that underlies OT effects in ASD is not fully known yet. Despite evidence from animal studies on connection...... hiện toàn bộ
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