Bolino Alessandra Professore AssociatoMedicineBIO/13




Alessandra Bolino obtained a degree in Biological Sciences from the University of Genoa, Genoa, Italy and a PhD in Human Genetics from the University of Turin, Turin, Italy. She did a research training in France as PhD student, in Paris and Lyon, and a three-years post-doctoral training at the University of Oxford, Oxford, UK. From 2001 to 2012, Alessandra has been awarded as an Assistant and then Associate Telethon Scientist within the Fondazione Telethon career program. Since 2007 she is the Group Leader of the Human Inherited Neuropathies Unit at the San Raffaele Scientific Institute, Milan, Italy. Alessandra is the Chair of the Scientific Advisory Board of the CMT4B3 Research Foundation, USA, and a former Board Member of the Italian Peripheral Nerve Association and of the Peripheral Nerve Society, USA, where she serves as Chair of strategic committees. Alessandra Bolino identified several disease genes, among which three genes responsible for inherited peripheral neuropathies, also known as Charcot-Marie-Tooth disease. Research in her laboratory seeks to identify new genes in human responsible for inherited peripheral neuropathies and lower motor neuron diseases; elucidate how defects in these genes provoke human diseases; clarify the molecular mechanisms that regulate membrane trafficking and homeostasis during myelin biogenesis using in vivo and ex vivo models of myelination; and exploit these mechanisms to design therapeutical strategies to ameliorate PNS diseases.


Unique identifiers

ORCID ID: 0000-0002-8980-4878

SCOPUS ID: 6701539642

Researcher ID: O-2933-2013




1998   PhD in Human Genetics, University of Turin, Turin, Italy.

1991   Degree in Biological Sciences 110/110 cum laude – University of Genoa, Genoa, Italy.

1987   Classical Studies, 60/60, Genoa, Italy.


Professional experience

2023 to date    Associate Professor in Biology, SSD BIO13 Vita-Salute San Raffaele University, Milan, Italy

2010                   Visiting Professor at Yale University, New Haven, USA. Host Prof. Pietro De Camilli

2007– to date    Group Leader, Human Inherited Neuropathies Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

2006 – 2012  Associate Telethon Scientist, San Raffaele Scientific Institute, Milan, Italy.

2001 – 2006  Assistant Telethon Scientist, San Raffaele Scientific Institute, Milan, Italy.

1998 – 2001  Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, U.K. Post-doctoral training. Supervisor Prof. Anthony P. Monaco

1996  TIGEM, Istituto Telethon di Genetica e Medicina, - Milan, Italy –Visiting scientist. Host Prof. Andrea Ballabio.

1995 – 1996 International Agency for Research on Cancer, Lyon, France – PhD student

1993 – 1997  PhD student in Human Genetics, University of Turin, Turin, Italy.

1992  Istituto Scientifico G. Gaslini, Genoa, Italy. Biologist.


Awards and honors

2006 – 2012  Fondazione Telethon. Associate Telethon Scientist, Career award

2005  The International Peripheral Nerve Society-USA, Fellowship

2001 – 2005  Fondazione Telethon. Assistant Telethon Scientist, Career award

2000  Regione Liguria, Genoa, Italy. Award for scientific research

1999 – 2000  Oxford University, Oxford UK – Contract.

1998  Fondazione Telethon – Fellowship

1997  Consiglio Nazionale delle Ricerche, CNR – Fellowship (renounce)

1996  Association Française pour la Recherche sur le Cancer, Paris, Francia- Fellowship

1995 Communauté de Travail des Alpes Occidentales, COTRAO, Francia – Fellowship

1993  Associazione Italiana per la Ricerca sul Cancro, AIRC - Fellowship


Professional activities

Participation in boards and committees of Scientific Societies

2022 to date                 Member of the AFM Scientific Council (Association Française contre les Myopathies), France.

2022 to date                 Chair of the Training grant initiative committee, Peripheral Nerve Society, USA

2021 to date  Member of the Executive Committee of the National Virtual Rare Diseases institute.

2020 to date  Chair of the Scientific Advisory Board of the CMT4B3 Research Foundation, USA.

2020 – 2022  Chair of the Educational Committee, Peripheral Nerve, Society, USA

2018 – 2020  Vice-Chair of the Educational Committee, Peripheral Nerve Society, USA

2016 – 2022  Board member of the Italian Peripheral Nerve Association

2015 – 2019  Board Member of the Peripheral Nerve Society, USA


Teaching activities

2019 – 2020 & 2022 – 2023  International Master “Peripheral nervous system disorders”. University of Milan & IRCCS “Carlo Besta” Neurological Institute Milan, Italy

2017  National Academic Qualification as Full Professor in Experimental Biology 05/F1.

2013  National Academic Qualification as Associate Professor in: Medical Genetics 06/A1; Genetics 05/I1, Experimental Biology 05/F1.

2016 – 2022   University of Bergamo, Faculty of Engeneering. BIO/11- Cellular and Molecular Biology. Adjunct Professor.

2015 – 2016  University of Bergamo, Faculty of Engeneering. BIO/11- Cellular and Molecular Biology. Tutor.

2010 – 2015  Vita-Salute San Raffaele University, SSD MED/26 Neurology: Molecular Mechanisms of myelination and repair”- Faculty of Medicine. Adjunct Professor.

20082012  Vita-Salute San Raffaele University Faculty of Psychological Sciences, SSD BIO/13 Experimental Biology. Tutor.



Human Molecular Genetics, Journal of Neurochemistry, Neuromuscular Disorders, Journal of Neuroscience, PLoS Genetics, Journal of Cell Biology, Autophagy, Journal of Clinical Investigation, Brain, American Journal of Human Genetics, EMBO J.

ELA - Association Européenne contre les Leucodystrophies

AFM, Association Française contre les Myopathies, FWO-Foundation for Scientific Research-Belgium, ANR- Agence Nationale pour la Recherche, France, MRC London, UK.


Editiorial Board

Editorial Board of the Journal of Peripheral Nervous System.


Meeting organization

2021  ICNMD 17th International Congress on Neuromuscular Diseases, Brussels July 2022. A. Bolino member of the Scientific Committee.

2019   Peripheral Nerve Society meeting, PNS, Genova, 22-26 June 2019. A Bolino, Co-Chair of the Scientific Committee.

2018  Peripheral Nerve Society meeting, PNS, Baltimore, USA 20-25 July 2018. A. Bolino member of the Scientific Committee.

2017 Seventh Annual Meeting ASNP, Italian French joint meeting, Bergamo, 20-22 April. A Bolino member of the Scientific Board.

2016  Charcot-Marie-Tooth and related neuropathies consortium Meeting, Venice, September 8-10. A. Bolino member of the Scientific Board

2015  A. Bolino organizer of a symposium “Schwann cell Biology and disease” Euroglia meeting, Bilbao July 15-18.

2013 Biennial Meeting of the Peripheral Nerve Society, Saint Malo, France. June-July. A. Bolino co-chair of the Scientific Board.

2013 PhD Course on “Cell polarity”, Vita-Salute San Raffaele University, PhD, Program in Molecular Medicine, Molecular and Cellular Biology

2011 PhD Course on “Membrane trafficking in health and disease”, Vita-Salute San Raffaele University, PhD Program in Molecular Medicine, Molecular and Cellular Biology


Institutional duties

2022 to date Member of the Scientific Board of INSPE, Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.

2021 to date Vice-Chair of the Board of the Curriculum in Neuroscience and Experimental Neurology, PhD School in Molecular Medicine, Vita-Salute San Raffaele University, Milan, Italy

2013 2015  Member of the “International Postdoctoral Program Committee- European Union Seventh Framework Programme”, Marie Curie Co-funding of Regional, National and International Programmes (COFUND) through the INVEST project, Vita-Salute San Raffaele University, Milan, Italy.

2011 – 2018 Member of the Board of the Curriculum in Cell Biology and pathophysiology, PhD School in Molecular Medicine, Vita-Salute San Raffaele University, Milan, Italy


Selected publications (best 15)

“Dysregulation of mTORC1-dependent myelin synthesis and actomyosin function underlies defective myelin longitudinal growth in CMT4B1 neuropathy”.

Guerrero-Valero M, Grandi F, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, Bolino A.

Proc Natl Acad Sci U S A. 2021 Mar 9;118 (10), e2009469118. doi: 10.1073/pnas.2009469118.

“Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth”.

Sawade L, Grandi F, Mignanelli M, Patiño-López G, Klinkert K, Langa Vives F, Di Guardo R, Echard A, Bolino A*, Haucke V*. * co-corresponding authors.

Nature Communications, 2020, Jun 5;11(1):2835. doi: 10.1038/s41467-020-16696-6.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Annals Neurology. 2019 Jul;86(1):55-67.

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.

Journal of Neurology, Neurosurgery &Psychiatry. 2019 Oct;90(10):1171-1179.

"Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold."

Noseda R, Guerrero-Valero M, Alberizzi V, Previtali SC, Sherman DL, Palmisano M, Huganir RL, Nave KA, Cuenda A, Feltri ML, Brophy PJ, Bolino A.

PLoS Biology. 2016 Apr 12;14(4):e1002440. doi: 10.1371/journal.pbio.1002440.

“Niacin-mediated Tace activation enhancement ameliorates CMT neuropathies with

focal hypermyelination”.

A. Bolino*, F. Piguet, V.Alberizzi, M. Pellegatta, C. Rivellini, M. Guerrero-Valero, R. Noseda, C. Brombin, A. Noni, P. D'Adamo, C. Taveggia, S. C. Previtali.

*corresponding author. EMBO Molecular Medicine, 2016 Dec 1;8(12):1438-1454.

“Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies”

Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.

PLoS Genetics 2011 Oct;7(10): e1002319. Epub 2011 Oct 20.

“Histopathological features may contribute to unravel the pathogenesis of rare CMT neuropathies”

S. Benedetti, S. C. Previtali, S. Coviello, M. Scarlato, F. Cerri, E. Di Pierri,  L. Piantoni, I. Spiga, R. Fazio, N. Riva, M. G. Natali Sora, P. Dacci, M. C. Malaguti, E. Munerati, L. M. E. Grimaldi, M.G. Marrosu, M. De Pellegrin, M. Ferrari, G. Comi, A. Quattrini, A. Bolino.

Archives Neurology, 67:1498-505 (2010).

“Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in schwann cell myelination”.

Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A.

Journal of Neuroscience 29: 8858-70 (2009).

“Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes CMT4B1 neuropathy with myelin outfoldings”.

A. Bolis, S. Coviello, S. Bussini, G. Dina, C. Pardini, S.C. Previtali, M. Malaguti, P. Morana, U. Del Carro, M.L. Feltri, A. Quattrini, L. Wrabetz, A. Bolino.

Journal of Neuroscience, 25: 8567-8577 (2005).

“Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis”.

Bolino A*, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L.

Journal of Cell Biology, 167: 711-21 (2004). * Corresponding author.

“Mutations in MTMR13, a new pseudo-phosphatase homologue of MTMR2 and Sbf1, are responsible for an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with juvenile-onset glaucoma.”

Azzedine H,* Bolino A,* Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. * Equally contributed.

American Journal of Human Genetics, 72: 1141-1153 (2003).

“Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve”

Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RHM, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.

Human Molecular Genetics, 12: 1713-1723 (2003).

“Charcot-Marie-Tooth type 4 B is caused by mutations in the gene encoding the myotubularin related protein 2, MTMR2, on chromosome 11q22.”

A. Bolino, M. Muglia, F.L. Conforti, E. LeGuern, A.M. Salih, D.M. Georgiou, R.K. Christodoulou, I. Hausmanowa-Petrusewicz, P. Mandich, A. Schenone, A. Gambardella, F. Bono, A. Quattrone, M. Devoto, A.P. Monaco.

Nature Genetics, 25: 17-19 (2000).

"A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10".

S.Lyonnet*, A. Bolino*, A.Pelet, L.Abel, C.M.Fekete, M.L.Briard, V.Mok Sui, H.Kaariainen, G.Martucciello, M.Lerone, A.Puliti, Y.Luo, J.Weissenbach, M.Devoto, A.Munnich, G.Romeo.

Nature Genetics, 4: 346-350 (1993). * equally contributed.


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