Silvia Leoncini - Academia.edu (original) (raw)

Papers by Silvia Leoncini

Research paper thumbnail of Rett症候群実験モデルmecp2~Q63X変異体ゼブラフィッシュのプロテオーム解析【Powered by NICT】

Journal of Proteomics, 2017

Research paper thumbnail of MECP2-およびCDKL5-関連Rett症候群におけるサイトカイン調節不全:酸化還元ホメオスタシス異常,炎症およびω-3 PUFAとの関係

Oxidative Medicine and Cellular Longevity (Web), 2015

Research paper thumbnail of Additional file 19. of Altered gut microbiota in Rett syndrome

MICCA pipelines used for the analysis of the 16S and ITS1 datasets. (PDF 7Â kb)

Research paper thumbnail of Additional file 1: Table S1. of Altered gut microbiota in Rett syndrome

Characteristics of study participants affected by Rett syndrome. (DOCX 24Â kb)

Research paper thumbnail of Additional file 3: Table S2. of Altered gut microbiota in Rett syndrome

Spearmanâ s correlation analysis among RTT clinical data. (DOCX 14Â kb)

Research paper thumbnail of Additional file 5: Table S4. of New evidences on the altered gut microbiota in autism spectrum disorders

Mean relative abundance (%) ± standard deviation (SD) of bacterial taxa at genus levels in autist... more Mean relative abundance (%) ± standard deviation (SD) of bacterial taxa at genus levels in autistic (AD) subjects and neurotypical (NT) controls subjects both constipated (C) and non-constipated (NC). (PDF 303 kb)

Research paper thumbnail of Additional file 9: Table S7. of New evidences on the altered gut microbiota in autism spectrum disorders

Mean relative abundance (%) ± standard deviation (SD) of fungal taxa at genus levels in autistic ... more Mean relative abundance (%) ± standard deviation (SD) of fungal taxa at genus levels in autistic (AD) subjects and neurotypical (NT) controls subjects both constipated (C) and non-constipated (NC). (PDF 199 kb)

Research paper thumbnail of Additional file 7: Table S6. of New evidences on the altered gut microbiota in autism spectrum disorders

Permutational multivariate analysis of variance (PERMANOVA) tests of the fungal gut microbiota on... more Permutational multivariate analysis of variance (PERMANOVA) tests of the fungal gut microbiota on the unweighted and weighted UniFrac distances and the Bray-Curtis dissimilarity according to individualsâ health status and constipation. (PDF 159 kb)

Research paper thumbnail of Additional file 1: Table S1. of New evidences on the altered gut microbiota in autism spectrum disorders

Statistical comparisons (Wilcoxon rank-sum test) of clinical data among autistic (AD) and neuroty... more Statistical comparisons (Wilcoxon rank-sum test) of clinical data among autistic (AD) and neurotypical (NT) subjects both constipated (C) and non-constipated (NC). (PDF 85 kb)

Research paper thumbnail of Additional file 6: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S5. Percentage of positive T-cells to T-bet, RORγt and both transcription factors T-bet an... more Figure S5. Percentage of positive T-cells to T-bet, RORγt and both transcription factors T-bet and RORγt, as measured by intracellular staining and flow cytometry of PBMCs stimulated with a, b, c) C. parapsilosis isolates and d, e, f) C. albicans isolates from HC and RTT subjects. Cells were gated for CD4+ and data are given as percentage of total gated CD4+ cells. (PDF 41 kb)

Research paper thumbnail of Additional file 4: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S3. UPGMA hierarchical clustering of C. parapsilosis genetic diversity calculated by using... more Figure S3. UPGMA hierarchical clustering of C. parapsilosis genetic diversity calculated by using samplesâ distance similarities (Jaccard index) from RAPD genotyping. C. parapsilosis isolates from HC and RTT subjects in green and red, respectively. (PDF 15Â kb)

Research paper thumbnail of Additional file 3: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S2. a) Intestinal fungal isolates ability (or not) to produce hyphae or pseudo-hyphae in r... more Figure S2. a) Intestinal fungal isolates ability (or not) to produce hyphae or pseudo-hyphae in relationship with their ability to be invasive on YPD solid medium; b) biofilm production by intestinal fungal isolates from HC and RTT subjects; ***p

Research paper thumbnail of Additional file 1 of Protective role of mirtazapine in adult female Mecp2+/− mice and patients with Rett syndrome

Additional file 1. Supplementary Figures

Research paper thumbnail of Research Article Subclinical Inflammatory Status in Rett Syndrome

Copyright © 2014 Alessio Cortelazzo et al. This is an open access article distributed under the C... more Copyright © 2014 Alessio Cortelazzo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., “pseudo-autistic”) RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0mm/h versus 8.0mm/h,

Research paper thumbnail of Review Article Isoprostanes and 4-Hydroxy-2-nonenal: Markers or Mediators of Disease? Focus on Rett Syndrome as a Model of Autism Spectrum Disorder

Copyright © 2013 Cinzia Signorini et al.This is an open access article distributed under theCreat... more Copyright © 2013 Cinzia Signorini et al.This is an open access article distributed under theCreativeCommonsAttribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Lipid peroxidation, a process known to induce oxidative damage to key cellular components, has been implicated in several diseases. Following three decades of explorations mainly on in vitromodels reproducible in the laboratories, lipid peroxidation has become increasingly relevant for the interpretation of a wide range of pathophysiological mechanisms in the clinical setting. This cumulative effort has led to the identification of several lipid peroxidation end-products meeting the needs of the in vivo evaluation. Among these different molecules, isoprostanes and 4-hydroxy-2-nonenal protein adducts appear to be particularly interesting. This review shows how specific oxidation products, deriving from polyunsaturated fatty acids precur...

Research paper thumbnail of Anomalia di forma dei globuli rossi e danno ossidativo nella membrana eritrocitaria nella sindrome di Rett

In condizioni fisiologiche, i globuli rossi - cellule dalle dimensioni di 7-8 m (millesimo di mm)... more In condizioni fisiologiche, i globuli rossi - cellule dalle dimensioni di 7-8 m (millesimo di mm) - mostrano una caratteristica forma a disco biconcavo (discociti), di importanza chiave per tutte le loro funzioni, quali la deformabilità (per adattarsi alle sinuosità della rete circolatoria), e lo scambio di ossigeno (O2), ma sono molto suscettibili a cambiamenti morfologici, con conseguente perdita della loro funzionalità. Tra i fattori che causano alterazioni morfologiche ci possono essere i cambiamenti di osmolarità, di pH, condizioni di ipossia e presenza di ossidanti (sostanze o molecole che possono indurre stress ossidativo) [1-5]. I globuli rossi a causa degli alti livelli di ferro cellulare e della proprietà dell’emoglobina ad auto-ossidarsi, sono una costante sorgente di produzione di ossidanti (radicali liberi dell’ossigeno come l’anione superossido) [6,7] e di ferro in forma libera (NPBI), cioè non legato a proteine, redox attivo. Stress ossidativo (SO) e ipossia possono portare ad alterazioni nella forma dei globuli rossi in pazienti adulti con malattia polmonare cronica ostruttiva (COPD) [7,8]. Nella forma tipica della sindrome di Rett (RTT ) il nostro gruppo ha dimostrato la presenza di ipossia cronica, alterati scambi di gas a livello polmonare, aumentato SO e lesioni morfologiche polmonari, simili a quelle evidenziabili nella malattia polmonare interstiziale associata a bronchiolite respiratoria dei fumatori (RB-ILD) [9,10]. Nonostante i globuli rossi svolgano un ruolo fondamentale nel trasporto e scambio di O2 nei mammiferi, finora non esistevano informazioni sulla morfologia dei globuli rossi nelle bimbe e ragazze affette da RTT . In particolare, nei nostri precedenti studi avevamo dimostrato che lo SO è in grado di indurre nei globuli rossi rilascio di NPBI, formazione di metemoglobina (Met-Hb) e alterazioni ossidative dei lipidi (perossidazione lipidica) e delle proteine di membrana [11]. Quindi nel presente studio abbiamo valutato se lo SO possa indurre cambiamenti morfologici e danno ossidativo nei globuli rossi di pazienti Rett con forma classica. La forma dei globuli rossi in pazienti RTT e in soggetti sani è stata correlata ai marker di SO, stato di ossigenazione, scambi gassosi polmonari e vari parametri cardiorespiratori

Research paper thumbnail of Additional file 10: Figure S6. of Altered gut microbiota in Rett syndrome

Genus level relative abundances of the bacterial gut microbiota of healthy controls (HC) and Rett... more Genus level relative abundances of the bacterial gut microbiota of healthy controls (HC) and Rett syndrome (RTT) subjects. (PDF 5470Â kb)

Research paper thumbnail of Additional file 10: Figure S3. of New evidences on the altered gut microbiota in autism spectrum disorders

Spearmanâ s correlation analysis among the most abundant bacterial genera and the constipation st... more Spearmanâ s correlation analysis among the most abundant bacterial genera and the constipation status of the subjects of the study cohort. (PDF 154 kb)

Research paper thumbnail of Protective role of mirtazapine in adult female Mecp2+/− mice and patients with Rett syndrome

Journal of Neurodevelopmental Disorders, 2020

Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP... more Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mecp2-gene has given hope of treating the disease at any age. However, adult RTT patients still urge for new treatments. Given the relationship between RTT and monoamine deficiency, we investigated mirtazapine (MTZ), a noradrenergic and specific-serotonergic antidepressant, as a potential treatment. Methods Adult heterozygous-Mecp2 (HET) female mice (6-months old) were treated for 30 days with 10 mg/kg MTZ and assessed for general health, motor skills, motor learning, and anxiety. Motor cortex, somatosensory cortex, and amygdala were analyzed for parvalbumin expression. Eighty RTT adult female patients harboring a pathogenic MECP2 mutation were randomly assigned to treatment to MTZ for insomnia and mood disorders (mean age = 23.1 ± 7.5 years, range ...

Research paper thumbnail of Increased isoprostanoid levels in brain from murine model of Krabbe disease – Relevance of isoprostanes, dihomo-isoprostanes and neuroprostanes to disease severity

Free Radical Biology and Medicine, 2019

HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific re... more HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des laboratoires publics ou privés.

Research paper thumbnail of Rett症候群実験モデルmecp2~Q63X変異体ゼブラフィッシュのプロテオーム解析【Powered by NICT】

Journal of Proteomics, 2017

Research paper thumbnail of MECP2-およびCDKL5-関連Rett症候群におけるサイトカイン調節不全:酸化還元ホメオスタシス異常,炎症およびω-3 PUFAとの関係

Oxidative Medicine and Cellular Longevity (Web), 2015

Research paper thumbnail of Additional file 19. of Altered gut microbiota in Rett syndrome

MICCA pipelines used for the analysis of the 16S and ITS1 datasets. (PDF 7Â kb)

Research paper thumbnail of Additional file 1: Table S1. of Altered gut microbiota in Rett syndrome

Characteristics of study participants affected by Rett syndrome. (DOCX 24Â kb)

Research paper thumbnail of Additional file 3: Table S2. of Altered gut microbiota in Rett syndrome

Spearmanâ s correlation analysis among RTT clinical data. (DOCX 14Â kb)

Research paper thumbnail of Additional file 5: Table S4. of New evidences on the altered gut microbiota in autism spectrum disorders

Mean relative abundance (%) ± standard deviation (SD) of bacterial taxa at genus levels in autist... more Mean relative abundance (%) ± standard deviation (SD) of bacterial taxa at genus levels in autistic (AD) subjects and neurotypical (NT) controls subjects both constipated (C) and non-constipated (NC). (PDF 303 kb)

Research paper thumbnail of Additional file 9: Table S7. of New evidences on the altered gut microbiota in autism spectrum disorders

Mean relative abundance (%) ± standard deviation (SD) of fungal taxa at genus levels in autistic ... more Mean relative abundance (%) ± standard deviation (SD) of fungal taxa at genus levels in autistic (AD) subjects and neurotypical (NT) controls subjects both constipated (C) and non-constipated (NC). (PDF 199 kb)

Research paper thumbnail of Additional file 7: Table S6. of New evidences on the altered gut microbiota in autism spectrum disorders

Permutational multivariate analysis of variance (PERMANOVA) tests of the fungal gut microbiota on... more Permutational multivariate analysis of variance (PERMANOVA) tests of the fungal gut microbiota on the unweighted and weighted UniFrac distances and the Bray-Curtis dissimilarity according to individualsâ health status and constipation. (PDF 159 kb)

Research paper thumbnail of Additional file 1: Table S1. of New evidences on the altered gut microbiota in autism spectrum disorders

Statistical comparisons (Wilcoxon rank-sum test) of clinical data among autistic (AD) and neuroty... more Statistical comparisons (Wilcoxon rank-sum test) of clinical data among autistic (AD) and neurotypical (NT) subjects both constipated (C) and non-constipated (NC). (PDF 85 kb)

Research paper thumbnail of Additional file 6: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S5. Percentage of positive T-cells to T-bet, RORγt and both transcription factors T-bet an... more Figure S5. Percentage of positive T-cells to T-bet, RORγt and both transcription factors T-bet and RORγt, as measured by intracellular staining and flow cytometry of PBMCs stimulated with a, b, c) C. parapsilosis isolates and d, e, f) C. albicans isolates from HC and RTT subjects. Cells were gated for CD4+ and data are given as percentage of total gated CD4+ cells. (PDF 41 kb)

Research paper thumbnail of Additional file 4: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S3. UPGMA hierarchical clustering of C. parapsilosis genetic diversity calculated by using... more Figure S3. UPGMA hierarchical clustering of C. parapsilosis genetic diversity calculated by using samplesâ distance similarities (Jaccard index) from RAPD genotyping. C. parapsilosis isolates from HC and RTT subjects in green and red, respectively. (PDF 15Â kb)

Research paper thumbnail of Additional file 3: of Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host

Figure S2. a) Intestinal fungal isolates ability (or not) to produce hyphae or pseudo-hyphae in r... more Figure S2. a) Intestinal fungal isolates ability (or not) to produce hyphae or pseudo-hyphae in relationship with their ability to be invasive on YPD solid medium; b) biofilm production by intestinal fungal isolates from HC and RTT subjects; ***p

Research paper thumbnail of Additional file 1 of Protective role of mirtazapine in adult female Mecp2+/− mice and patients with Rett syndrome

Additional file 1. Supplementary Figures

Research paper thumbnail of Research Article Subclinical Inflammatory Status in Rett Syndrome

Copyright © 2014 Alessio Cortelazzo et al. This is an open access article distributed under the C... more Copyright © 2014 Alessio Cortelazzo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., “pseudo-autistic”) RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0mm/h versus 8.0mm/h,

Research paper thumbnail of Review Article Isoprostanes and 4-Hydroxy-2-nonenal: Markers or Mediators of Disease? Focus on Rett Syndrome as a Model of Autism Spectrum Disorder

Copyright © 2013 Cinzia Signorini et al.This is an open access article distributed under theCreat... more Copyright © 2013 Cinzia Signorini et al.This is an open access article distributed under theCreativeCommonsAttribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Lipid peroxidation, a process known to induce oxidative damage to key cellular components, has been implicated in several diseases. Following three decades of explorations mainly on in vitromodels reproducible in the laboratories, lipid peroxidation has become increasingly relevant for the interpretation of a wide range of pathophysiological mechanisms in the clinical setting. This cumulative effort has led to the identification of several lipid peroxidation end-products meeting the needs of the in vivo evaluation. Among these different molecules, isoprostanes and 4-hydroxy-2-nonenal protein adducts appear to be particularly interesting. This review shows how specific oxidation products, deriving from polyunsaturated fatty acids precur...

Research paper thumbnail of Anomalia di forma dei globuli rossi e danno ossidativo nella membrana eritrocitaria nella sindrome di Rett

In condizioni fisiologiche, i globuli rossi - cellule dalle dimensioni di 7-8 m (millesimo di mm)... more In condizioni fisiologiche, i globuli rossi - cellule dalle dimensioni di 7-8 m (millesimo di mm) - mostrano una caratteristica forma a disco biconcavo (discociti), di importanza chiave per tutte le loro funzioni, quali la deformabilità (per adattarsi alle sinuosità della rete circolatoria), e lo scambio di ossigeno (O2), ma sono molto suscettibili a cambiamenti morfologici, con conseguente perdita della loro funzionalità. Tra i fattori che causano alterazioni morfologiche ci possono essere i cambiamenti di osmolarità, di pH, condizioni di ipossia e presenza di ossidanti (sostanze o molecole che possono indurre stress ossidativo) [1-5]. I globuli rossi a causa degli alti livelli di ferro cellulare e della proprietà dell’emoglobina ad auto-ossidarsi, sono una costante sorgente di produzione di ossidanti (radicali liberi dell’ossigeno come l’anione superossido) [6,7] e di ferro in forma libera (NPBI), cioè non legato a proteine, redox attivo. Stress ossidativo (SO) e ipossia possono portare ad alterazioni nella forma dei globuli rossi in pazienti adulti con malattia polmonare cronica ostruttiva (COPD) [7,8]. Nella forma tipica della sindrome di Rett (RTT ) il nostro gruppo ha dimostrato la presenza di ipossia cronica, alterati scambi di gas a livello polmonare, aumentato SO e lesioni morfologiche polmonari, simili a quelle evidenziabili nella malattia polmonare interstiziale associata a bronchiolite respiratoria dei fumatori (RB-ILD) [9,10]. Nonostante i globuli rossi svolgano un ruolo fondamentale nel trasporto e scambio di O2 nei mammiferi, finora non esistevano informazioni sulla morfologia dei globuli rossi nelle bimbe e ragazze affette da RTT . In particolare, nei nostri precedenti studi avevamo dimostrato che lo SO è in grado di indurre nei globuli rossi rilascio di NPBI, formazione di metemoglobina (Met-Hb) e alterazioni ossidative dei lipidi (perossidazione lipidica) e delle proteine di membrana [11]. Quindi nel presente studio abbiamo valutato se lo SO possa indurre cambiamenti morfologici e danno ossidativo nei globuli rossi di pazienti Rett con forma classica. La forma dei globuli rossi in pazienti RTT e in soggetti sani è stata correlata ai marker di SO, stato di ossigenazione, scambi gassosi polmonari e vari parametri cardiorespiratori

Research paper thumbnail of Additional file 10: Figure S6. of Altered gut microbiota in Rett syndrome

Genus level relative abundances of the bacterial gut microbiota of healthy controls (HC) and Rett... more Genus level relative abundances of the bacterial gut microbiota of healthy controls (HC) and Rett syndrome (RTT) subjects. (PDF 5470Â kb)

Research paper thumbnail of Additional file 10: Figure S3. of New evidences on the altered gut microbiota in autism spectrum disorders

Spearmanâ s correlation analysis among the most abundant bacterial genera and the constipation st... more Spearmanâ s correlation analysis among the most abundant bacterial genera and the constipation status of the subjects of the study cohort. (PDF 154 kb)

Research paper thumbnail of Protective role of mirtazapine in adult female Mecp2+/− mice and patients with Rett syndrome

Journal of Neurodevelopmental Disorders, 2020

Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP... more Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mecp2-gene has given hope of treating the disease at any age. However, adult RTT patients still urge for new treatments. Given the relationship between RTT and monoamine deficiency, we investigated mirtazapine (MTZ), a noradrenergic and specific-serotonergic antidepressant, as a potential treatment. Methods Adult heterozygous-Mecp2 (HET) female mice (6-months old) were treated for 30 days with 10 mg/kg MTZ and assessed for general health, motor skills, motor learning, and anxiety. Motor cortex, somatosensory cortex, and amygdala were analyzed for parvalbumin expression. Eighty RTT adult female patients harboring a pathogenic MECP2 mutation were randomly assigned to treatment to MTZ for insomnia and mood disorders (mean age = 23.1 ± 7.5 years, range ...

Research paper thumbnail of Increased isoprostanoid levels in brain from murine model of Krabbe disease – Relevance of isoprostanes, dihomo-isoprostanes and neuroprostanes to disease severity

Free Radical Biology and Medicine, 2019

HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific re... more HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des laboratoires publics ou privés.