Ilaria Morella

p70 ribosomal protein S6 Kinase (p70S6K) as a potential peripheral biomarker for mental symptoms in 16p11.2 deletion and duplication syndromes

Ilaria Morella, J. Hall, Charlotte Butter, Caitlin Goldie et autres

Abstract Neurodevelopmental disorders (NDDs) encompass heterogeneous cognitive, motor, and psychiatric manifestations that typically require extensive behavioural assessments for characterization. Individuals carrying 16p11.2 copy number variations (CNVs), including both deletions and duplications, represent a relatively common NDD subgroup marked by wide variability in …

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Abstracts for Presentation at the SSBP 27th International Research Symposium and Educational Day, Amsterdam, the Netherlands

Riccardo Brambilla, Ilaria Morella, Judith E. Hall, Christian Butter et autres

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study

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Direct pathway bias and altered striatal neurogenesis in human iPSC models of 16p11.2 CNVs: Evidence from single-cell and functional analyses

Marija Fjodorova, Parinda Prapaiwongs, Olena Petter, Ilaria Morella et autres

Summary Striatal medium spiny neurons (MSNs) control motor, cognitive, and social domains via direct (dMSNs) and indirect (iMSNs) basal ganglia pathways. Recent genomic analyses implicate striatal circuit dysfunction in neurodevelopmental disorders (NDDs) and highlight MSNs as a newly recognised cell type affected …

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Correction: Impairment of cocaine-mediated behaviours in mice by clinically relevant Ras-ERK inhibitors

Alessandro Papale, Ilaria Morella, Marzia Tina Indrigo, Rick Eugene Bernardi et autres

Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain

Enrico Bagnoli, Yu‐En Lin, Sophie Burel, Ebsy Jaimon et autres

Mutations in Leucine-rich repeat kinase 2 (LRRK2) and PTEN-induced kinase 1 (PINK1) are associated with familial Parkinson's disease (PD). LRRK2 phosphorylates Rab guanosine triphosphatase (GTPases) within the Switch II domain while PINK1 directly phosphorylates Parkin and ubiquitin (Ub) and indirectly induces phosphorylation …

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Neurobiology, molecular pathways, and environmental influences in antisocial traits and personality disorders

ANDREW R. E. SHAW, Ilaria Morella, Lorenzo Morè

Personality disorders (PDs) are psychiatric conditions characterized by enduring patterns of cognition, emotion, and behaviour that deviate significantly from cultural norms, causing distress or impairment. The aetiology of PDs is complex, involving both genetic and environmental factors. Genetic studies estimate the heritability …

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Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter

Tianqi Wang, Ilaria Morella, Francesco Bedogni, Vladimir Trajkovski et autres

Deletion and duplication in the human 16p11.2 chromosomal region are closely linked to neurodevelopmental disorders, specifically autism spectrum disorder. Data from neuroimaging studies suggest white matter microstructure aberrations across these conditions. In 16p11.2 deletion and duplication carriers, potential gene dosage effects may …

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Modulating voltage-gated sodium channels to enhance differentiation and sensitize glioblastoma cells to chemotherapy

Francesca Giammello, Chiara Biella, Erica Cecilia Priori, Matilde Amat Di San Filippo et autres

Abstract Background Glioblastoma (GBM) stands as the most prevalent and aggressive form of adult gliomas. Despite the implementation of intensive therapeutic approaches involving surgery, radiation, and chemotherapy, Glioblastoma Stem Cells contribute to tumor recurrence and poor prognosis. The induction of Glioblastoma Stem …

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Editorial: Cellular and molecular mechanisms in social and repetitive behaviours: a focus on cortico-striatal circuitry

Ilaria Morella, Riccardo Brambilla, Yann Hérault

The striatum is key to repetitive/stereotyped behaviour, a hallmark of neurodevelopmental disorders and other neuropsychiatric conditions (Gandhi and Lee, 2020). The review by Burton et al. provides an in-depth discussion of the striatal alterations underlying repetitive behaviours at the circuit and cellular …

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Mouse brain immunohistochemistry - colorimetric analysis v1

Ilaria Morella, Riccardo Brambilla

This protocol details the mouse brain immunohistochemistry by colorimetric analysis.

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Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes

Roberta Leone, Cecilia Zuglian, Riccardo Brambilla, Ilaria Morella

Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions that affect >4% of children worldwide, share common features and present a variegated genetic origin. They include clinically defined diseases, such as autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), motor disorders such …

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Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain

Enrico Bagnoli, Yu‐En Lin, Sophie Burel, Ebsy Jaimon et autres

ABSTRACT Mutations in LRRK2 and PINK1 are associated with familial Parkinson’s disease (PD). LRRK2 phosphorylates Rab GTPases within the Switch II domain whilst PINK1 directly phosphorylates Parkin and ubiquitin and indirectly induces phosphorylation of a subset of Rab GTPases. Herein we have …

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