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Maria Pennuto

Principal Investigator

At VIMM, Maria Pennuto leads a laboratory that studies how age-related neurodegenerative and cancerous diseases develop. She focuses in particular on Kennedy’s disease (also known as spinal and bulbar muscular atrophy) and other rare diseases, in order to understand how certain toxic proteins damage nerves and muscles. Her work also explores the role of muscle as a potential target for new therapies. She combines advanced methods in biology, genetics, and gene therapy to develop innovative strategies and identify new therapeutic targets. Thanks to her research, experimental therapies have already been launched and tested in clinical studies.

Group members

Diana Piol

  • Ricercatore Senior

Caterina Marchioretti

  • Ricercatore Senior

Emanuela Zuccaro

  • Ricercatore Senior

Alfredo Sepe

  • Ricercatore

Ivan Bianco

  • Ricercatore

Adham Kamaleldeen Omara Hegazy

  • Ricercatore

Simona Zito

  • PhD student

Simona D’addario

  • PhD student

Giacomo Bincoletto

  • PhD student

Giulia Boarolo

  • PhD student

Research

Maria Pennuto’s research investigates how certain toxic proteins damage nerves and muscles, causing diseases such as SBMA (also known as Kennedy’s disease). Her laboratory has discovered new mechanisms that regulate these proteins and has paved the way for innovative therapies to block their harmful effects. She has demonstrated that muscle is not just a passive “target” but plays an active role in the disease, offering new possibilities for treatment. Her studies also address cancers that affect men and women differently, as well as rare diseases of nervous system development. She coordinates projects supported by major research organizations and biotech companies.

Publications

  1. The evolution of eukaryotic linear motifs governing the function of androgen receptor from fish to Homo sapiens.

    Falconieri A, Boarolo G, Boschelle C, Spagnolli G, Marchioretti C, Zuccaro E, Palazzolo I, Tosatto L, Hegazy AKO, Rosati J, Fischbeck K, Basso M, Liedtke HC, Gomez-Mestre I, Dalla Valle L, Biasini E, Faccioli P, Grapputo A, Pennuto M. Nucleic Acids Res. 2025 Jul 19;53(14):gkaf688. doi: 10.1093/nar/gkaf688.

  2. Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis.

    Marabita M, Marchioretti C, Aravamudhan A, Zito S, Falconieri A, Zuccaro E, Andreotti R, Gambarotto L, Metti S, Tonellato M, Adami V, Park KH, Gunthorpe MJ, Large CH, Marasco A, Vianello S, Rosati J, Belluzzi E, Pozzuoli A, Biz C, Ruggieri P, Basso M, Poletti A, Alvaro G, Sorarù G, Bonaldo P, Rossetto O, Pilati N, Pennuto M. Acta Neuropathol Commun. 2025 Jul 14;13(1):153. doi: 10.1186/s40478-025-02067-z.

  3. Introduction to the Special Issue “Skeletal Muscle Atrophy: Mechanisms at a Cellular Level”.

    Zuccaro E, Marchioretti C, Pirazzini M, Pennuto M. Cells. 2023 Feb 3;12(3):502. doi: 10.3390/cells12030502.

  4. Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle.

    Marchioretti C, Zanetti G, Pirazzini M, Gherardi G, Nogara L, Andreotti R, Martini P, Marcucci L, Canato M, Nath SR, Zuccaro E, Chivet M, Mammucari C, Pacifici M, Raffaello A, Rizzuto R, Mattarei A, Desbats MA, Salviati L, Megighian A, Sorarù G, Pegoraro E, Belluzzi E, Pozzuoli A, Biz C, Ruggieri P, Romualdi C, Lieberman AP, Babu GJ, Sandri M, Blaauw B, Basso M, Pennuto M. Nat Commun. 2023 Feb 6;14(1):602. doi: 10.1038/s41467-023-36185-w.

  5. LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.

    Prakasam R, Bonadiman A, Andreotti R, Zuccaro E, Dalfovo D, Marchioretti C, Tripathy D, Petris G, Anderson EN, Migazzi A, Tosatto L, Cereseto A, Battaglioli E, Sorarù G, Lim WF, Rinaldi C, Sambataro F, Pourshafie N, Grunseich C, Romanel A, Pandey UB, Contestabile A, Ronzitti G, Basso M, Pennuto M. Nat Commun. 2023 Feb 6;14(1):603. doi: 10.1038/s41467-023-36186-9.

Curriculum

2000

PhD in Cellular and Molecular Biology

2001 - 2004

Research Fellow - Istituto S. Raffaele (Milano)

2005 - 2008

Visiting Postdoctoral Researcher (NIH–NINDS)

2008 - 2009

Senior Researcher, Department of Neurology, University of Pennsylvania

2009 - 2014

Principal Investigator - Istituto Italiano di Tecnologia (Genoa)

2013 - 2017

Associate Professor - CIBIO, Università di Trento

2018 - 2023

Deputy Scientific Director - VIMM

2017 - 2025

Associate Professor - Università degli Studi di Padova

2018 - present

Principal Investigator - VIMM

2025 - present

Full Professor - Università degli Studi di Padova

Selected Awards

1997

A. Marzullo National Award for Master’s Thesis, Università di Trieste (Italia)

1998

European Science Foundation Scolarship

2003

Euresco Fellowship

2005

Competitive Postdoctoral Fellowship – Telethon

2017

“State-of-the-Art” Lecture Award, Arimura Foundation, 13th International PACAP Conference, Hong Kong

2013

Career Award – Dulbecco Telethon Institute

2019

Marie Curie Travel Fellowship, MCAA General Assembly, Vienna, Austria

2022

National Career Achievement Award “Cenacolo delle Scienze”, Milan, Italy

2024

Alessandro Moretta Award – Research Ambassador, Genoa, Italy

2024

Chica & Heinz Schaller Foundation Award in Translational Neuroscience, FENS, Vienna, Austria

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