Publications by authors named "C Bagni"

Article Synopsis
  • Autism Spectrum Disorder (ASD) is influenced by genetic, epigenetic, and environmental factors, particularly mutations in the FMR1 gene linked to Fragile X Syndrome (FXS).
  • The study used a mouse model to examine how a simulated viral infection (maternal immune activation, MIA) during pregnancy affects the development of ASD-like behaviors in offspring, finding that such exposure led to these behaviors only when it occurred in the womb.
  • MIA activation influenced the mGluR1/5-mTOR signaling pathway, impacting learning and memory processes in the hippocampus, but combining MIA with the Fmr1 mutation did not worsen autistic traits, indicating a complex interaction between genetic and environmental factors.
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Article Synopsis
  • Repetitive stereotyped behaviors are key symptoms of autism spectrum disorders and fragile X syndrome, linked to dysregulation in the dopamine circuit which affects movement and habits.
  • Research shows that hyperactivity in specific dopamine neurons is an early sign of fragile X syndrome, driven by interactions between certain receptors (mGluR1 and ErbB).
  • Inhibiting ErbB receptors can reduce hyperactivity and repetitive behaviors in fragile X mouse models, suggesting a potential new treatment avenue for autism and fragile X syndrome.
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The finely tuned regulation of mitochondria activity is essential for proper brain development. Fragile X Syndrome (FXS), the leading cause of inherited intellectual disability, is a neurodevelopmental disorder in which mitochondrial dysfunction has been increasingly implicated. This study investigates the role of Glycogen Synthase Kinase 3β (GSK3β) in FXS.

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Neurons rely on mitochondrial energy metabolism for essential functions like neurogenesis, neurotransmission, and synaptic plasticity. Mitochondrial dysfunctions are associated with neurodevelopmental disorders including Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, which also presents with motor skill deficits. However, the precise role of mitochondria in the pathophysiology of FXS remains largely unknown.

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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with uncertain origins. Understanding of the mechanisms underlying ASD remains limited, and treatments are lacking. Genetic diversity complicates drug development.

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