Publications by authors named "F Miozzo"

Article Synopsis
  • Protocadherins, especially Protocadherin 9 (PCDH9), are important for cell-cell interactions and have been linked to Autism Spectrum Disorder (ASD) and Major Depressive Disorder (MDD).
  • Knockout (KO) of PCDH9 in mice leads to abnormal neuronal development, characterized by larger presynaptic terminals and increased excitatory synapse activity in the hippocampus.
  • The findings suggest that PCDH9 plays a critical role in regulating excitatory synapse morphology and function, influencing glutamatergic transmission and potentially contributing to neurodevelopmental disorders.
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Intracellular trafficking of AMPA receptors is a tightly regulated process which involves several adaptor proteins, and is crucial for the activity of excitatory synapses both in basal conditions and during synaptic plasticity. We found that, in rat hippocampal neurons, an intracellular pool of the tetraspanin TSPAN5 promotes exocytosis of AMPA receptors without affecting their internalisation. TSPAN5 mediates this function by interacting with the adaptor protein complex AP4 and Stargazin and possibly using recycling endosomes as a delivery route.

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Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). The biological pathways underlying these neurodevelopmental defects remain elusive. Here, we unravel the contribution of a stress-responsive pathway to RSTS.

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Progressive degeneration of dopaminergic (DA) neurons in the substantia nigra is a hallmark of Parkinson's disease (PD). Dysregulation of developmental transcription factors is implicated in dopaminergic neurodegeneration, but the underlying molecular mechanisms remain largely unknown. Drosophila Fer2 is a prime example of a developmental transcription factor required for the birth and maintenance of midbrain DA neurons.

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