Patrizia Rizzu
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View article: Piccolo Regulates Secretion of the Extracellular Matrix Components Brevican and Tenascin R from Astrocytes to Drive Synapse Formation: Implications for Pontocerebellar Hypoplasia Type 3 (PCH3)
Piccolo Regulates Secretion of the Extracellular Matrix Components Brevican and Tenascin R from Astrocytes to Drive Synapse Formation: Implications for Pontocerebellar Hypoplasia Type 3 (PCH3) Open
Background Astrocytes are crucial for CNS health, for instance via the secretion of extracellular matrix (ECM) components that are vital for synapse formation and maturation. While the scaffolding protein Piccolo is known for its role at s…
View article: Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS Open
View article: Inhibition of MicroRNA-129-5p Promotes Neuroinflammation and Cognitive Impairment
Inhibition of MicroRNA-129-5p Promotes Neuroinflammation and Cognitive Impairment Open
Frontotemporal dementia (FTD) is a neurodegenerative disorder that causes the frontal and temporal lobes of the brain to deteriorate over time. This leads to changes in behavior, language problems, and a loss of mental abilities. Dysregula…
View article: A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes
A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes Open
View article: Exploring the role of brain DNA methylomic signatures on gene expression dynamics of frontotemporal lobar degeneration
Exploring the role of brain DNA methylomic signatures on gene expression dynamics of frontotemporal lobar degeneration Open
Background Frontotemporal lobar degeneration (FTLD) is an umbrella term describing the neuropathology of a clinically, genetically and pathologically heterogeneous group of diseases, which includes frontotemporal dementia and progressive s…
View article: Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain
Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain Open
Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations in…
View article: Plasma extracellular vesicle Tau isoform ratios and TDP-43 inform about molecular pathology in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Plasma extracellular vesicle Tau isoform ratios and TDP-43 inform about molecular pathology in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Open
Low-invasive biomarkers are urgently needed for the detection of molecular pathology in Frontotemporal Dementia (FTD), FTD spectrum disorders and Amyotrophic Lateral Sclerosis (ALS). This is particularly true in behavior variant FTD (bvFTD…
View article: Epigenetic age acceleration in frontotemporal lobar degeneration: a comprehensive analysis in the blood and brain
Epigenetic age acceleration in frontotemporal lobar degeneration: a comprehensive analysis in the blood and brain Open
Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations in…
View article: Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes Open
View article: The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism Open
The Foundational Data Initiative for Parkinson Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of induced…
View article: Rescue of the increased susceptibility to Mild Chronic Oxidative Stress of iNeurons carrying the MAPT Chromosome 17q21.3 H1/H1 risk allele by FDA-approved compounds
Rescue of the increased susceptibility to Mild Chronic Oxidative Stress of iNeurons carrying the MAPT Chromosome 17q21.3 H1/H1 risk allele by FDA-approved compounds Open
The microtubule associated protein tau (MAPT) chromosome 17q21.31 locus lies within a region of high linkage disequilibrium (LD) conferring two extended haplotypes commonly referred to as H1 and H2. The major haplotype, H1 has been genetic…
View article: Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals<i>OTUD4</i>in shared dysregulated signatures across pathological subtypes
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals<i>OTUD4</i>in shared dysregulated signatures across pathological subtypes Open
Frontotemporal lobar degeneration (FTLD) is an umbrella term describing the neuropathology of a clinically, genetically and pathologically heterogeneous group of diseases, including frontotemporal dementia (FTD) and progressive supranuclea…
View article: Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Frontotemporal dementia is characterized by progressive atrophy of frontal and/or temporal cortices at an early age of onset. The disorder shows considerable clinical, pathological, and genetic heterogeneity. Here we investigated the prote…
View article: Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD
Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD Open
An intronic (G4C2)n expansion in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia primarily through gain-of-function mechanisms: the accumulation of sense and antisense repeat RNA fo…
View article: Additional file 14 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 14 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 14 Lists of significant GO enrichment analysis results for proteins differentially expressed in both temporal cortical FTD-MAPT vs NDC and AD vs NDC. GO enrichment analysis was performed for proteins differentially expresse…
View article: Additional file 7 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 7 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 7 Lists of SynGO enrichment analysis results for proteins differentially expressed in frontal cortical FTD-GRN vs NDC and temporal cortical FTD-MAPT vs NDC. SynGO enrichment analysis was performed on proteins differentially…
View article: Additional file 5 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 5 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 5 Lists of significant GO enrichment analysis results for proteins differentially expressed in frontal cortical FTD-GRN vs NDC and temporal cortical FTD-MAPT vs NDC. GO enrichment analysis was performed on proteins differen…
View article: Additional file 15 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 15 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 15 Lists of SynGO enrichment analysis results for proteins differentially expressed in both temporal cortical FTD-MAPT vs NDC and AD vs NDC. SynGO enrichment analysis was performed for proteins differentially expressed at q…
View article: Additional file 3 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 3 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 3 Lists of unique proteins detected and quantified within frontal and temporal cortical tissues for the RiMOD-FTD genetic subtypes. Proteins were selected using quality filtering on peptide level (q ≤10-3 in at least 50% of…
View article: Additional file 13 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 13 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 13 Overview of unique proteins detected and quantified within temporal cortical tissues for AD and unique proteins detected and quantified within temporal cortical tissues for both AD and the FTD-MAPT subtype. Proteins were…
View article: Additional file 8 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia
Additional file 8 of Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia Open
Additional file 8 Overview of MitoCarta-based analysis for proteins differentially expressed in frontal cortical FTD-GRN vs NDC. MitoCarta-based analysis was performed on proteins differentially expressed at q < 0.05. Results include MitoC…
View article: Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome Open
View article: The Foundational data initiative for Parkinson’s disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism
The Foundational data initiative for Parkinson’s disease (FOUNDIN-PD): enabling efficient translation from genetic maps to mechanism Open
The FOUNdational Data INitiative for Parkinson’s Disease (FOUNDIN-PD) is an international collaboration producing fundamental resources for Parkinson’s disease (PD). FOUNDIN-PD generated a multi-layered molecular dataset in a cohort of ind…
View article: Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Open
View article: Integrated multi-omics analysis reveals common and distinct dysregulated pathways for genetic subtypes of Frontotemporal Dementia
Integrated multi-omics analysis reveals common and distinct dysregulated pathways for genetic subtypes of Frontotemporal Dementia Open
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is essential for the development of successful therapies. Here we integrated transcriptomic and epigenomic analyses of postmortem human brains of FTD patients …
View article: A multi-omics dataset for the analysis of Frontotemporal Dementia genetic subtypes
A multi-omics dataset for the analysis of Frontotemporal Dementia genetic subtypes Open
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is essential for the development of successful therapies. Systematic studies on human post-mortem brain tissue of patients with genetic subtypes of FTD are cur…
View article: Corrigendum: Functional annotation of human long noncoding RNAs via molecular phenotyping
Corrigendum: Functional annotation of human long noncoding RNAs via molecular phenotyping Open
The authors would like to correct Figure 3, panel J, in which the rightmost upper image of SA-β-gal stained 293T cells following short hairpin RNA (shRNA)-mediated knockdown of RRAS2 with sh769 (RRAS2-KD-sh769) was inadvertently, and due t…
View article: Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring
Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring Open
Manual culture and differentiation protocols for human induced pluripotent stem cells (hiPSC) are difficult to standardize, show high variability and are prone to spontaneous differentiation into unwanted cell types. The methods are labor-…
View article: Functional annotation of human long noncoding RNAs via molecular phenotyping
Functional annotation of human long noncoding RNAs via molecular phenotyping Open
Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we systematically knocked down the expression of 285 lncRNAs in…
View article: Clinical and pathologic phenotype of a large family with heterozygous <i>STUB1</i> mutation
Clinical and pathologic phenotype of a large family with heterozygous <i>STUB1</i> mutation Open
This study confirms previous findings of heterozygous STUB1 mutations as the cause of SCA48 and highlights its prominent cognitive involvement, besides cerebellar ataxia and movement disorders as cardinal features. The presence of i…