Author

Elena Pegoraro

University of PaduaORCID 0000-0002-7740-4156Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Elena Pegoraro1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

A.P. Lieberman· 1 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alice Flynn Ford· 1 shared Alice KusteriD· 1 shared Ana TöpfiD· 1 shared Andrea ArmaniiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperNeuroscience

A.P. Lieberman

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2 papers

Recent·Most cited

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort, Lin E. Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola C. Foulds, Simon R. Hammans, Aileen Reghan Foley, Charlotte M. Fare, Alice Flynn Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, , J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

Nature Communications · Apr 28, 2022Peer-reviewedGenetic & Genomic Medicine

Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program

Mathilde Chivet, Caterina Marchioretti, Marco Pirazzini, Diana Piol, Chiara Scaramuzzino, JM Polanco, S Nath, Emanuela Zuccaro, Leonardo Nogara, Marta Canato, Lorenzo Marcucci, Sara Parodi, Vanina Romanello, Andrea Armani, Maurizio D’Antonio, , Maria Pennuto

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.

bioRxiv · Apr 26, 2019 · PreprintNeuroscience