Publications by authors named "F G Guarnieri"

Loss-of-function mutations in MECP2 are associated to Rett syndrome (RTT), a severe neurodevelopmental disease. Mainly working as a transcriptional regulator, MeCP2 absence leads to gene expression perturbations resulting in deficits of synaptic function and neuronal activity. In addition, RTT patients and mouse models suffer from a complex metabolic syndrome, suggesting that related cellular pathways might contribute to neuropathogenesis.

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Article Synopsis
  • Neurons rely on autophagy, a process that recycles damaged proteins and organelles, to maintain cellular health and function over their long lifespan, particularly in the face of challenges like starvation.
  • Research shows that a neuron-specific protein called APache plays a critical role in autophagy by helping transport autophagosomes back to the cell body, affecting synaptic health.
  • Silencing APache disrupts this transport, leading to an accumulation of autophagosomes at synapses which may contribute to early neurodegenerative issues linked to impaired autophagy.
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The aim of this study is to identify autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) traits in adolescents who experience psychotic-like experiences (PLEs), often ignored in clinical practice but widely prevalent in the general population. A total of 57 adolescents and young adults (aged between 16 and 24 years old) were recruited consecutively in the outpatient services. A total of 37 were females (64.

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Periventricular nodular heterotopia (PNH), the most common brain malformation diagnosed in adulthood, is characterized by the presence of neuronal nodules along the ventricular walls. PNH is mainly associated with mutations in the FLNA gene - encoding an actin-binding protein - and patients often develop epilepsy. However, the molecular mechanisms underlying the neuronal failure still remain elusive.

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G protein-gated inwardly rectifying K (GIRK) channels form highly active heterotetramers in the body, such as in neurons (GIRK1/GIRK2 or GIRK1/2) and heart (GIRK1/GIRK4 or GIRK1/4). Based on three-dimensional atomic resolution structures for GIRK2 homotetramers, we built heterotetrameric GIRK1/2 and GIRK1/4 models in a lipid bilayer environment. By employing a urea-based activator ML297 and its molecular switch, the inhibitor GAT1587, we captured channel gating transitions and K ion permeation in sub-microsecond molecular dynamics (MD) simulations.

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