Claudia Manzoni

LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics

This study shows that LRRK2 regulates synaptic function by modulating actin cytoskeletal dynamics through BDNF signaling in neurons.

Evolutionary divergence of LRRK2 interaction domains contributes to human- and mouse-specific protein interaction networks

This study shows that evolutionary divergence in LRRK2 interaction domains leads to species-specific protein interaction networks in humans and mice.

Loss of catalytic activity and impaired proteostasis in guanosine nucleotide-depleted LRRK2

This study investigates the functional consequences of catalytic activity loss in LRRK2, showing impaired proteostasis and altered interactome in guanosine nucleotide-depleted Lrrk2.

Contrasting patterns of interleukin signalling in LRRK2 and idiopathic Parkinson's

The paper compares inflammatory markers in sporadic and LRRK2-associated Parkinson's using transcriptomics and proteomics to identify molecular differences and a protein cluster linked to tau pathology.

LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons

This study shows that LRRK2 kinase mediates haloperidol-induced motor side effects in striatal neurons, suggesting LRRK2 as a target to reduce antipsychotic side effects.

PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner

This study identifies PAK6 as a modifier of LRRK2 mutations, showing it rescues ciliogenesis defects in G2019S but not R1441C mutations.

Transcriptomics analyses of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson's Disease

The paper compares transcriptomic changes in LRRK2 protein interactors between sporadic and LRRK2 Parkinson's Disease to identify molecular differences.

Protein network analysis links the NSL complex to Parkinson's disease and mitochondrial biology

The paper identifies the NSL complex's role in Parkinson's disease by analyzing its mitochondrial interactome and linking it to PD-associated genes and pathways.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at Chr16q11.2 and on the MAPT H1 allele

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

Tissue specific LRRK2 interactomes reveal a distinct functional unit within the striatum

The paper constructs tissue-specific LRRK2 interactomes and identifies a functional cluster within the striatum, highlighting distinct expression patterns and interactions in brain regions.

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein

The paper identifies 38 genes regulating a-synuclein cell-to-cell transfer using an siRNA screen and shows genetic overlap with Parkinson's disease.

Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias

This study uses protein-protein interaction networks and machine learning to stratify Hereditary Spastic Paraplegias based on molecular mechanisms and clinical presentations.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

PINOT: An Intuitive Resource for Integrating Protein-Protein Interactions

PINOT is a web tool that integrates and curates protein-protein interaction data from multiple sources to construct PPI networks for human and C. elegans.

Integration of eQTL and Parkinson’s disease GWAS data implicates 11 disease genes

This paper integrates eQTL and Parkinson’s disease GWAS data to identify 11 disease genes and pathways involved in PD risk through colocalisation, TWAS, and network analysis.