Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions

Authors: Laura Coculo, Marius Wits, Irene Mariani, Giulia Fianco, Serena Cappato, Renata Bocciardi, Nicoletta Pedemonte, Elisabetta Volpe, Serena Ciolfi, Rosario Luigi Sessa, Serena Rinaldo, Francesca Cutruzzolà, Daniela Trisciuoglio, Marie-Josè Goumans, Gonzalo Sanchez-Duffhues, Venturina Stagni

Source: Cell Death Discovery, Vol 11, Iss 1, Pp 1-13 (2025)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2058-7716

Access URL: https://doaj.org/article/ccb70cab6b544ae0a2bdf902f98d9378

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome

Authors: Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi

Source: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/598511c3e47042db9f23b05823f04bab

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

Authors: Serena Cappato, Rasa Traberg, Jolita Gintautiene, Federico Zara, Renata Bocciardi

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Subject Terms: Activin A, ACVR1, BMP signaling, Fibrodysplasia Ossificans Progressiva, p.R258W, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/58b92b79a3a946e98f486780a9b02f10

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Authors: Serena Cappato, Laura Tonachini, Francesca Giacopelli, Mario Tirone, Luis J. V. Galietta, Martina Sormani, Anna Giovenzana, Antonello E. Spinelli, Barbara Canciani, Silvia Brunelli, Roberto Ravazzolo, Renata Bocciardi

Source: Disease Models & Mechanisms, Vol 9, Iss 6, Pp 685-696 (2016)

Subject Terms: ACVR1, Transcriptional regulation, BMP signaling pathway, FOP, Dipyridamole, High-throughput screening, Drug repositioning, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/9/6/685; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/bc8881ef03a44f499df1f39179097a51

Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men

Authors: Serena Cappato, Riccardo Gamberale, Renata Bocciardi, Silvia Brunelli

Source: Biomedicines, Vol 8, Iss 12, p 611 (2020)

Subject Terms: heterotopic ossification, mouse models, fibrodysplasia ossificans progressiva, FOP, ACVR1/Alk2, BMP signalling, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/8/12/611; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/d12de57e916b40b88250867975068d96

Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva

Authors: Serena Cappato, Laura Tonachini, Francesca Giacopelli, Mario Tirone, Luis J. V. Galietta, Martina Sormani, Anna Giovenzana, Antonello E. Spinelli, Barbara Canciani, Silvia Brunelli, Roberto Ravazzolo, Renata Bocciardi

Source: Disease Models & Mechanisms, Vol 9, Iss 9, Pp 1067-1067 (2016)

Subject Terms: Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/9/9/1067; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/8712d40c77db4e90ba2a3b77318e150b

The role of the 3'UTR region in the regulation of the ACVR1/Alk-2 gene expression.

Authors: Marzia Mura, Serena Cappato, Francesca Giacopelli, Roberto Ravazzolo, Renata Bocciardi

Source: PLoS ONE, Vol 7, Iss 12, p e50958 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3515447?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a971840effb14283a67a083f8c796016

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