Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Authors: Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)

Subject Terms: Activity-dependent neuroprotective protein (ADNP), Helsmoortel-Van der Aa syndrome (HVDAS), Antibody validation, Blocking peptide competition assay, Adnp knock-out cell line, Immunoprecipitation, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f7c381ec5b634584bcd2d05f0e32ea1f

Tumor microenvironment-induced FOXM1 regulates ovarian cancer stemness

Authors: Chiara Battistini, Hilary A. Kenny, Melissa Zambuto, Valentina Nieddu, Valentina Melocchi, Alessandra Decio, Pietro Lo Riso, Carlo Emanuele Villa, Alessia Gatto, Mariacristina Ghioni, Francesca M. Porta, Giuseppe Testa, Raffaella Giavazzi, Nicoletta Colombo, Fabrizio Bianchi, Ernst Lengyel, Ugo Cavallaro

Source: Cell Death and Disease, Vol 15, Iss 5, Pp 1-13 (2024)

Subject Terms: Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2041-4889

Access URL: https://doaj.org/article/bbabde530b394fa6aa21455619c9f3bc

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

Authors: Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy

Source: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-28 (2023)

Subject Terms: Helsmoortel–Van der Aa syndrome, Activity-Dependent Neuroprotective Protein, ADNP, Chromatin remodeler, Autism, intellectual disability, neurodevelopmental disorder, cancer, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/4fd1319c8f87495ca67f5845e1e6e030

H3K27me3 Demethylases Maintain the Transcriptional and Epigenomic Landscape of the Intestinal EpitheliumSummary

Authors: Hannah M. Kolev, Avital Swisa, Elisabetta Manduchi, Yemin Lan, Rachel R. Stine, Giuseppe Testa, Klaus H. Kaestner

Source: Cellular and Molecular Gastroenterology and Hepatology, Vol 15, Iss 4, Pp 821-839 (2023)

Subject Terms: ChIP-Seq, KDM6A, KDM6B, Lgr5+ ISCs, Paneth Cells, PRC2, Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352345X22002491; https://doaj.org/toc/2352-345X

Access URL: https://doaj.org/article/a95e54038c994905928595d51e834d0f

Benchmarking brain organoid recapitulation of fetal corticogenesis

Authors: Cristina Cheroni, Sebastiano Trattaro, Nicolò Caporale, Alejandro López-Tobón, Erika Tenderini, Sara Sebastiani, Flavia Troglio, Michele Gabriele, Raul Bardini Bressan, Steven M. Pollard, William T. Gibson, Giuseppe Testa

Source: Translational Psychiatry, Vol 12, Iss 1, Pp 1-16 (2022)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3188

Access URL: https://doaj.org/article/7c5ac3db6303413cac42055c8be0e9f1

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Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens

Authors: Alejandro Andirkó, Juan Moriano, Alessandro Vitriolo, Martin Kuhlwilm, Giuseppe Testa, Cedric Boeckx

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/1bdd7e78991346889481c4ae822811c0

Editorial: Cell biology of brain development and evolution

Authors: Felipe Mora‐Bermúdez, Giuseppe Testa, Elena Taverna

Source: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

Subject Terms: brain evo-devo, stem cells, cell biology, brain organoids, astrocytes, vasculature, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1147510/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/da06caec89094097830d914450d5e97b

Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

Authors: Giulia Della Chiara, Federica Gervasoni, Michaela Fakiola, Chiara Godano, Claudia D’Oria, Luca Azzolin, Raoul Jean Pierre Bonnal, Giulia Moreni, Lorenzo Drufuca, Grazisa Rossetti, Valeria Ranzani, Ramona Bason, Marco De Simone, Francesco Panariello, Ivan Ferrari, Tanya Fabbris, Francesca Zanconato, Mattia Forcato, Oriana Romano, Jimmy Caroli, Paola Gruarin, Maria Lucia Sarnicola, Michelangelo Cordenonsi, Alberto Bardelli, Nicola Zucchini, Andrea Pisani Ceretti, Nicolò Maria Mariani, Andrea Cassingena, Andrea Sartore-Bianchi, Giuseppe Testa, Luca Gianotti, Enrico Opocher, Federica Pisati, Claudio Tripodo, Giuseppe Macino, Salvatore Siena, Silvio Bicciato, Stefano Piccolo, Massimiliano Pagani

Source: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/d24dcbd0a4754b4e8fdf6d5dd0925565

Reconstitution of a functional human thymus by postnatal stromal progenitor cells and natural whole-organ scaffolds

Authors: Sara Campinoti, Asllan Gjinovci, Roberta Ragazzini, Luca Zanieri, Linda Ariza-McNaughton, Marco Catucci, Stefan Boeing, Jong-Eun Park, John C. Hutchinson, Miguel Muñoz-Ruiz, Pierluigi G. Manti, Gianluca Vozza, Carlo E. Villa, Demetra-Ellie Phylactopoulos, Constance Maurer, Giuseppe Testa, Hans J. Stauss, Sarah A. Teichmann, Neil J. Sebire, Adrian C. Hayday, Dominique Bonnet, Paola Bonfanti

Source: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/c841855db99048c2a21529c2cdc906b1

High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons

Authors: Francesca Cavallo, Flavia Troglio, Giovanni Fagà, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, Matteo Zanella, Giuseppe D’Agostino, James M. Hughes, Maria Rosaria Cera, Maurizio Pasi, Michele Gabriele, Maddalena Lazzarin, Marija Mihailovich, Frank Kooy, Alessandro Rosa, Ciro Mercurio, Mario Varasi, Giuseppe Testa

Source: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)

Subject Terms: Autism spectrum disorder, 7q11.23 duplication syndrome, Intellectual disability, High-throughput screening, HDAC inhibitors, Induced pluripotent stem cells, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00387-6; https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/8a6215aea7bb40f2bf98c05a3d022f77

JMJD3 acts in tandem with KLF4 to facilitate reprogramming to pluripotency

Authors: Yinghua Huang, Hui Zhang, Lulu Wang, Chuanqing Tang, Xiaogan Qin, Xinyu Wu, Meifang Pan, Yujia Tang, Zhongzhou Yang, Isaac A. Babarinde, Runxia Lin, Guanyu Ji, Yiwei Lai, Xueting Xu, Jianbin Su, Xue Wen, Takashi Satoh, Tanveer Ahmed, Vikas Malik, Carl Ward, Giacomo Volpe, Lin Guo, Jinlong Chen, Li Sun, Yingying Li, Xiaofen Huang, Xichen Bao, Fei Gao, Baohua Liu, Hui Zheng, Ralf Jauch, Liangxue Lai, Guangjin Pan, Jiekai Chen, Giuseppe Testa, Shizuo Akira, Jifan Hu, Duanqing Pei, Andrew P. Hutchins, Miguel A. Esteban, Baoming Qin

Source: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/ac78b96cad84437384cee675241f1bdb

A cell-of-origin epigenetic tracer reveals clinically distinct subtypes of high-grade serous ovarian cancer

Authors: Pietro Lo Riso, Carlo Emanuele Villa, Gilles Gasparoni, Andrea Vingiani, Raffaele Luongo, Anna Manfredi, Annemarie Jungmann, Alessia Bertolotti, Francesca Borgo, Annalisa Garbi, Michela Lupia, Pasquale Laise, Vivek Das, Giancarlo Pruneri, Giuseppe Viale, Nicoletta Colombo, Teresa Manzo, Luigi Nezi, Ugo Cavallaro, Davide Cacchiarelli, Jörn Walter, Giuseppe Testa

Source: Genome Medicine, Vol 12, Iss 1, Pp 1-20 (2020)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00786-7; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/aa3c17c5bc5549b2bf586e26c47db96e

Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology

Authors: Cristina Cheroni, Nicolò Caporale, Giuseppe Testa

Source: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)

Subject Terms: Autism spectrum disorder, Neurodevelopmental disorders, Pluripotent stem cells, Brain organoids, Developmental neurotoxicology, Endocrine disruptors, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00370-1; https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/e61fb4d7fb3940fdb8548f801a00f700

The sociability spectrum: evidence from reciprocal genetic copy number variations

Authors: Alejandro López-Tobón, Sebastiano Trattaro, Giuseppe Testa

Source: Molecular Autism, Vol 11, Iss 1, Pp 1-13 (2020)

Subject Terms: Sociability, Autism spectrum disorders, Hypersociability, 7q11.23, William-Beuren syndrome, 7dupASD, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00347-0; https://doaj.org/toc/2040-2392

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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

Authors: Danijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, Sebastiano Trattaro, Nicolò Caporale, Anna Falk, Rivka Ofir, Vivi M. Heine, Samuel J. R. A. Chawner, Antonio Rodriguez-Moreno, Marianne B. M. van den Bree, Giuseppe Testa, Spyros Petrakis, Adrian J. Harwood

Source: Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)

Subject Terms: Human iPSCs, Copy number variants (CNVs), Neurodevelopmental disorders (NDD), Autism spectrum disorders (ASD), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00343-4; https://doaj.org/toc/2040-2392

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EZH2-Mediated H3K27me3 Targets Transcriptional Circuits of Neuronal Differentiation

Authors: Serena Buontempo, Pasquale Laise, James M. Hughes, Sebastiano Trattaro, Vivek Das, Chantal Rencurel, Giuseppe Testa

Source: Frontiers in Neuroscience, Vol 16 (2022)

Subject Terms: EZH2 (enhancer of zeste homolog 2), H3K27me3 – histone H3 tri-methylated at Lysine 27, neuronal differentiation, PRC2 (Polycomb repressive complex 2), corticogenesis, epigenetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.814144/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/364545fc5725480b9422d154b7645c28

CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories

Authors: Carlo Emanuele Villa, Cristina Cheroni, Christoph P. Dotter, Alejandro López-Tóbon, Bárbara Oliveira, Roberto Sacco, Aysan Çerağ Yahya, Jasmin Morandell, Michele Gabriele, Mojtaba R. Tavakoli, Julia Lyudchik, Christoph Sommer, Mariano Gabitto, Johann G. Danzl, Giuseppe Testa, Gaia Novarino

Source: Cell Reports, Vol 39, Iss 1, Pp 110615- (2022)

Subject Terms: CP: Neuroscience, CP: Stem cell research, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124722003631; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/6936143fd8d847328798ae491020edb1

Novel in vitro Experimental Approaches to Study Myelination and Remyelination in the Central Nervous System

Authors: Davide Marangon, Nicolò Caporale, Marta Boccazzi, Maria P. Abbracchio, Giuseppe Testa, Davide Lecca

Source: Frontiers in Cellular Neuroscience, Vol 15 (2021)

Subject Terms: myelination, oligodendrocytes, co-cultures, hiPSCs, organoids, models, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2021.748849/full; https://doaj.org/toc/1662-5102

Access URL: https://doaj.org/article/5d1b8bac86da4cb4b937f891035dd91f

Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis

Authors: Alejandro López-Tobón, Carlo Emanuele Villa, Cristina Cheroni, Sebastiano Trattaro, Nicolò Caporale, Paola Conforti, Raffaele Iennaco, Maria Lachgar, Marco Tullio Rigoli, Berta Marcó de la Cruz, Pietro Lo Riso, Erika Tenderini, Flavia Troglio, Marco De Simone, Isabel Liste-Noya, Giuseppe Macino, Massimiliano Pagani, Elena Cattaneo, Giuseppe Testa

Source: Stem Cell Reports, Vol 13, Iss 5, Pp 847-861 (2019)

Subject Terms: Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671119303340; https://doaj.org/toc/2213-6711

Access URL: https://doaj.org/article/59aa1d8855cf47e49b953ab485034343