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17 results on '"Pedini, Giorgia"'

5. Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Author

Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, and Bagni, Claudia

Subjects
Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Published
2018

6. FMRP modulates the Wnt signalling pathway in glioblastoma

Author

Pedini, Giorgia, Buccarelli, Mariachiara, Bianchi, Fabrizio, Pacini, Laura, Cencelli, Giulia, D’Alessandris, Quintino Giorgio, Martini, Maurizio, Giannetti, Stefano, Sasso, Franceschina, Melocchi, Valentina, Farace, Maria Giulia, Achsel, Tilmann, Larocca, Luigi M., Ricci-Vitiani, Lucia, Pallini, Roberto, and Bagni, Claudia

Published
2022
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8. Fragile X mental retardation protein in intrahepatic cholangiocarcinoma: regulating the cancer cell behavior plasticity at the leading edge

Author

Carotti, Simone, Zingariello, Maria, Francesconi, Maria, D’Andrea, Laura, Latasa, M. Ujue, Colyn, Leticia, Fernandez-Barrena, Maite G., Flammia, Rocco Simone, Falchi, Mario, Righi, Daniela, Pedini, Giorgia, Pantano, Francesco, Bagni, Claudia, Perrone, Giuseppe, Rana, Rosa Alba, Avila, Matias A., Morini, Sergio, and Zalfa, Francesca

Published
2021
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10. Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

Author

O’Neill, Adam C., primary, Uzbas, Fatma, additional, Antognolli, Giulia, additional, Merino, Florencia, additional, Draganova, Kalina, additional, Jäck, Alex, additional, Zhang, Sirui, additional, Pedini, Giorgia, additional, Schessner, Julia P., additional, Cramer, Kimberly, additional, Schepers, Aloys, additional, Metzger, Fabian, additional, Esgleas, Miriam, additional, Smialowski, Pawel, additional, Guerrini, Renzo, additional, Falk, Sven, additional, Feederle, Regina, additional, Freytag, Saskia, additional, Wang, Zefeng, additional, Bahlo, Melanie, additional, Jungmann, Ralf, additional, Bagni, Claudia, additional, Borner, Georg H. H., additional, Robertson, Stephen P., additional, Hauck, Stefanie M., additional, and Götz, Magdalena, additional

Published
2022
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12. Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Author

Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia, Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, and Bagni, Claudia

Published
2021

13. Correction to: Protein synthesis levels are increased in a subset of individuals with fragile X syndrome:Protein synthesis levels are increased in a subset of individuals with fragile X syndrome (Human Molecular Genetics (2018) 27: 12 (2039–2051) DOI: 10.1093/hmg/ddy099)

Author

Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, and Bagni, Claudia

Published
2018
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14. Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

Author

Alfedi, Giulia, primary, Luffarelli, Riccardo, additional, Condò, Ivano, additional, Pedini, Giorgia, additional, Mannucci, Liliana, additional, Massaro, Damiano S., additional, Benini, Monica, additional, Toschi, Nicola, additional, Alaimo, Giorgia, additional, Panarello, Luca, additional, Pacini, Laura, additional, Fortuni, Silvia, additional, Serio, Dario, additional, Malisan, Florence, additional, Testi, Roberto, additional, and Rufini, Alessandra, additional

Published
2019
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15. Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Author

Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia, Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, and Bagni, Claudia

16. Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Author

Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia, Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E., Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D'Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, and Bagni, Claudia

Abstract

Fragile X syndrome (FXS) is a monogenic form of intellectual disability and autism spectrum disorder caused by the absence of the fragile X mental retardation protein (FMRP). In biological models for the disease, this leads to upregulated mRNA translation and as a consequence, deficits in synaptic architecture and plasticity. Preclinical studies revealed that pharmacological interventions restore those deficits, which are thought to mediate the FXS cognitive and behavioral symptoms. Here, we characterized the de novo rate of protein synthesis in patients with FXS and their relationship with clinical severity. We measured the rate of protein synthesis in fibroblasts derived from 32 individuals with FXS and from 17 controls as well as in fibroblasts and primary neurons of 27 Fmr1 KO mice and 20 controls. Here, we show that levels of protein synthesis are increased in fibroblasts of individuals with FXS and Fmr1 KO mice. However, this cellular phenotype displays a broad distribution and a proportion of fragile X individuals and Fmr1 KO mice do not show increased levels of protein synthesis, having measures in the normal range. Because the same Fmr1 KO animal measures in fibroblasts predict those in neurons we suggest the validity of this peripheral biomarker. Our study offers a potential explanation for the comprehensive drug development program undertaken thus far yielding negative results and suggests that a significant proportion, but not all individuals with FXS, may benefit from the reduction of excessive levels of protein synthesis.

17. Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.

Author

O'Neill AC, Uzbas F, Antognolli G, Merino F, Draganova K, Jäck A, Zhang S, Pedini G, Schessner JP, Cramer K, Schepers A, Metzger F, Esgleas M, Smialowski P, Guerrini R, Falk S, Feederle R, Freytag S, Wang Z, Bahlo M, Jungmann R, Bagni C, Borner GHH, Robertson SP, Hauck SM, and Götz M

Subjects
Alternative Splicing, Animals, Brain abnormalities, Humans, Induced Pluripotent Stem Cells, Mice, Microtubules metabolism, Proteome metabolism, RNA Splicing Factors metabolism, Transcription Factors metabolism, Centrosome metabolism, Neural Stem Cells, Neurogenesis, Neurons metabolism, Periventricular Nodular Heterotopia metabolism, Protein Interaction Maps
Abstract

The centrosome provides an intracellular anchor for the cytoskeleton, regulating cell division, cell migration, and cilia formation. We used spatial proteomics to elucidate protein interaction networks at the centrosome of human induced pluripotent stem cell-derived neural stem cells (NSCs) and neurons. Centrosome-associated proteins were largely cell type-specific, with protein hubs involved in RNA dynamics. Analysis of neurodevelopmental disease cohorts identified a significant overrepresentation of NSC centrosome proteins with variants in patients with periventricular heterotopia (PH). Expressing the PH-associated mutant pre-mRNA-processing factor 6 (PRPF6) reproduced the periventricular misplacement in the developing mouse brain, highlighting missplicing of transcripts of a microtubule-associated kinase with centrosomal location as essential for the phenotype. Collectively, cell type-specific centrosome interactomes explain how genetic variants in ubiquitous proteins may convey brain-specific phenotypes.

Published
2022
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