[PDF][PDF] Rescuing over-activated microglia restores cognitive performance in juvenile animals of the Dp (16) mouse model of Down syndrome

…, E Varea, T Catelani, A Contestabile, LE Perlini… - Neuron, 2020 - cell.com
Microglia are brain-resident immune cells and regulate mechanisms essential for cognitive
functions. Down syndrome (DS), the most frequent cause of genetic intellectual disability, is …

[HTML][HTML] Gene editing preserves visual functions in a mouse model of retinal degeneration

P Vagni, LE Perlini, NAL Chenais, T Marchetti… - Frontiers in …, 2019 - frontiersin.org
Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative
diseases caused by mutations in various genes. Given the favorable anatomical and …

[PDF][PDF] Synapsin III acts downstream of semaphorin 3A/CDK5 signaling to regulate radial migration and orientation of pyramidal neurons in vivo

LE Perlini, J Szczurkowska, BA Ballif, A Piccini… - Cell reports, 2015 - cell.com
Synapsin III (SynIII) is a phosphoprotein that is highly expressed at early stages of neuronal
development. Whereas in vitro evidence suggests a role for SynIII in neuronal differentiation, …

Effects of phosphorylation and neuronal activity on the control of synapse formation by synapsin I

LE Perlini, F Botti, EF Fornasiero… - Journal of cell …, 2011 - journals.biologists.com
Synapsins are synaptic vesicle (SV)-associated proteins that regulate synaptic transmission
and neuronal differentiation. At early stages, Syn I and II phosphorylation at Ser9 by cAMP-…

Phosphorylation by PKA and Cdk5 mediates the early effects of synapsin III in neuronal morphological maturation

A Piccini, LE Perlini, L Cancedda… - Journal of …, 2015 - Soc Neuroscience
Synapsin III (SynIII) is a neuron-specific phosphoprotein that plays a unique role in neuronal
development. SynIII is phosphorylated by cAMP-dependent protein kinase (PKA) at a highly …

A rat model of a focal mosaic expression of PCDH19 replicates human brain developmental abnormalities and behaviours

…, A Savardi, M Bolla, B Pinto, LE Perlini… - Brain …, 2022 - academic.oup.com
Protocadherin 19 gene-related epilepsy or protocadherin 19 clustering epilepsy is an
infantile-onset epilepsy syndrome characterized by psychiatric (including autism-related), sensory, …

[HTML][HTML] Synapsin III in brain development

LE Perlini, F Benfenati, L Cancedda - Oncotarget, 2016 - ncbi.nlm.nih.gov
Since the dawn of neuroscience, genetic alterations causing macroscopic brain defects have
attracted the attention of scientists. However, in recent years, the increasing understanding …

[PDF][PDF] BRAIN COMMUNICATIONS AIN COMMUNICATIONS

…, R Narducci, A Savardi, M Bolla, B Pinto, LE Perlini… - 2022 - researchgate.net
… Ilias Ziogas,1,2 Roberto Narducci,1 Annalisa Savardi,1,6 Maria Bolla,1,2 Bruno Pinto,1,4
Laura E. Perlini,1 Silvia Bassani,5 Maria Passafaro5 and Laura Cancedda1,6 …

Mosaic expression of X-linked PCDH19 Protein by in Utero Electroporation in Rats Replicates Human Cortical and Hippocampal Developmental Abnormalities …

AW Cwetsch, R Narducci, M Bolla, B Pinto, L Perlini… - bioRxiv, 2020 - biorxiv.org
PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9) is an
infantile onset epilepsy syndrome characterized by psychiatric (including autistic) sensory …

Gene editing in photoreceptor progenitors prevents visual function loss in a mouse model of retinal degeneration.

P Vagni, LE Perlini, M Parrini… - … & Visual Science, 2017 - iovs.arvojournals.org
Purpose: Currently, there is no known cure for Retinitis pigmentosa (RP). Even if some treatments
can slow down the progression of the disease, none of them can effectively stop retinal …