Claudia Manzoni
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View article: LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics
LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics Open
Parkinson’s disease (PD) is a multisystemic disorder that manifests through motor and non-motor symptoms. Motor dysfunction is the most debilitating and it is caused by the degeneration of dopamine-producing neurons in the substantia nigra…
View article: Author response: LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics
Author response: LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics Open
View article: Contrasting patterns of interleukin signalling in LRRK2 and idiopathic Parkinson’s
Contrasting patterns of interleukin signalling in LRRK2 and idiopathic Parkinson’s Open
Sporadic PD and LRRK2-associated Parkinson’s Disease (PD) present with similar features although the familial form of disease is classically associated with less cognitive impairment, better REM sleep behaviour, and reduced incidence of hy…
View article: LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons
LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons Open
View article: PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner
PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner Open
View article: Transcriptomics and weighted protein network analyses of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease
Transcriptomics and weighted protein network analyses of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease Open
View article: Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia Open
View article: LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons
LRRK2 mediates haloperidol-induced changes in indirect pathway striatal projection neurons Open
Haloperidol is used to manage psychotic symptoms in several neurological disorders through mechanisms that involve antagonism of dopamine D2 receptors that are highly expressed in the striatum. Significant side effects of haloperidol, know…
View article: PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner
PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner Open
P21 activated kinase 6 (PAK6) is a serine-threonine kinase with physiological expression enriched in the brain and overexpressed in a number of human tumors. While the role of PAK6 in cancer cells has been extensively investigated, the phy…
View article: PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner
PAK6 rescues pathogenic LRRK2-mediated ciliogenesis and centrosomal cohesion defects in a mutation-specific manner Open
P21 activated kinase 6 (PAK6) is a serine-threonine kinase with physiological expression enriched in the brain and overexpressed in a number of human tumors. While the role of PAK6 in cancer cells has been extensively investigated, the phy…
View article: LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics
LRRK2 regulates synaptic function through modulation of actin cytoskeletal dynamics Open
Parkinson’s disease (PD) is a multisystemic disorder that manifests through motor and non-motor symptoms. Motor dysfunction is the most debilitating and it is caused by the degeneration of dopamine-producing neurons in the substantia nigra…
View article: Reviewer #1 (Public Review): LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton
Reviewer #1 (Public Review): LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton Open
Parkinson's disease (PD) is a multisystemic disorder that manifests through motor and non-motor symptoms. Motor dysfunction is the most debilitating and it is caused by the degeneration of dopamine-producing neurons in the substantia nigra…
View article: Reviewer #2 (Public Review): LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton
Reviewer #2 (Public Review): LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton Open
Parkinson's disease (PD) is a multisystemic disorder that manifests through motor and non-motor symptoms. Motor dysfunction is the most debilitating and it is caused by the degeneration of dopamine-producing neurons in the substantia nigra…
View article: LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton
LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton Open
Parkinson’s disease (PD) is a multisystemic disorder that manifests through motor and non-motor symptoms. Motor dysfunction is the most debilitating and it is caused by the degeneration of dopamine-producing neurons in the substantia nigra…
View article: Human mutations in SLITRK3 implicated in GABAergic synapse development in mice
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice Open
This study reports on biallelic homozygous and monoallelic de novo variants in SLITRK3 in three unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, int…
View article: Active natural compounds perturb the melanoma risk-gene network
Active natural compounds perturb the melanoma risk-gene network Open
Cutaneous melanoma is an aggressive type of skin cancer with a complex genetic landscape caused by the malignant transformation of melanocytes. This study aimed at providing an in silico network model based on the systematic profiling of t…
View article: Transcriptomics and weighted protein network analysis of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease
Transcriptomics and weighted protein network analysis of the LRRK2 protein interactome reveal distinct molecular signatures for sporadic and LRRK2 Parkinson’s Disease Open
Mutations in the LRRK2 gene are the most common genetic cause for familial Parkinson’s Disease (LRRK2-PD) and an important risk factor for sporadic PD (sPD). Multiple clinical trials are ongoing to evaluate the benefits associated with the…
View article: Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration
Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration Open
Cortical cell loss is a core feature of Huntington’s disease (HD), beginning many years before clinical motor diagnosis, during the premanifest stage. However, it is unclear how genetic topography relates to cortical cell loss. Here, we ex…
View article: Table S1 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S1 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S1 shows the chromosome aberrations in skin fibroblasts from the patient carrying the MAPT V363A mutation
View article: Table S6 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S6 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S6 shows tau's expression in almost all evaluated tissues, according to publicly available RNA/protein expression databases (GTEx; Cancer Atlas; Human Protein Atlas)
View article: Table S3 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S3 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S3 shows all cancer types found in tau-mutated and reference families
View article: Table S4 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S4 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S4 shows the functional annotation analysis evaluating Gene Ontology-Biological Processes (GO-BPs) enrichment, in order to gather insight into the biological functions associated with tau's entire interactome
View article: Table S6 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S6 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S6 shows tau's expression in almost all evaluated tissues, according to publicly available RNA/protein expression databases (GTEx; Cancer Atlas; Human Protein Atlas)
View article: Table S3 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S3 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S3 shows all cancer types found in tau-mutated and reference families
View article: Table S1 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S1 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S1 shows the chromosome aberrations in skin fibroblasts from the patient carrying the MAPT V363A mutation
View article: Data from Tau Mutations Serve as a Novel Risk Factor for Cancer
Data from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
In addition to its well-recognized role in neurodegeneration, tau participates in maintenance of genome stability and chromosome integrity. In particular, peripheral cells from patients affected by frontotemporal lobar degeneration carryin…
View article: Table S2 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S2 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S2 shows in detail the number of subjects and regions of origin of tau-mutated and reference families
View article: Table S4 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S4 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S4 shows the functional annotation analysis evaluating Gene Ontology-Biological Processes (GO-BPs) enrichment, in order to gather insight into the biological functions associated with tau's entire interactome
View article: Table S5 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S5 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S5 shows the strong and unbiased specificity of tau's interactome, by generating 25 random protein sets with similar size to the tau's interactome and their functional enrichment
View article: Table S5 from Tau Mutations Serve as a Novel Risk Factor for Cancer
Table S5 from Tau Mutations Serve as a Novel Risk Factor for Cancer Open
Table S5 shows the strong and unbiased specificity of tau's interactome, by generating 25 random protein sets with similar size to the tau's interactome and their functional enrichment