Emanuela Gussoni
  • Boston Children's Hospital
Research focus
  • Stem cell
  • 1 Author merit


Ph.D., University of Milan, Italy, 1986

Current position

Associate Professor, Medicine/Genetics, Harvard University/Boston Children's Hospital , USA


  1. Spinazzola, J. M. and Gussoni, E. (2017). Exosomal Small Talk Carries Strong Messages from Muscle Stem Cells. Cell Stem Cell 20(1): 1-3.
  2. Alexander, M. S., Rozkalne, A., Colletta, A., Spinazzola, J. M., Johnson, S., Rahimov, F., Meng, H., Lawlor, M. W., Estrella, E., Kunkel, L. M. and Gussoni, E. (2016). CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell 19(6): 800-807.
  3. Chal, J., Oginuma, M., Al Tanoury, Z., Gobert, B., Sumara, O., Hick, A., Bousson, F., Zidouni, Y., Mursch, C., Moncuquet, P., Tassy, O., Vincent, S., Miyanari, A., Bera, A., Garnier, J. M., Guevara, G., Hestin, M., Kennedy, L., Hayashi, S., Drayton, B., Cherrier, T., Gayraud-Morel, B., Gussoni, E., Relaix, F., Tajbakhsh, S. and Pourquie, O. (2015). Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy. Nat Biotechnol 33(9): 962-969.
  4. Robin, J. D., Wright, W. E., Zou, Y., Cossette, S. C., Lawlor, M. W. and Gussoni, E. (2015). Isolation and immortalization of patient-derived cell lines from muscle biopsy for disease modeling. J Vis Exp(95): 52307.
  5. Rozkalne, A., Adkin, C., Meng, J., Lapan, A., Morgan, J. E. and Gussoni, E. (2014). Mouse regenerating myofibers detected as false-positive donor myofibers with anti-human spectrin. Hum Gene Ther 25(1): 73-81.
  6. Balasubramanian, A., Kawahara, G., Gupta, V. A., Rozkalne, A., Beauvais, A., Kunkel, L. M. and Gussoni, E. (2014). Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J 28(7): 2955-2969.
  7. Huang, P., Schulz, T. J., Beauvais, A., Tseng, Y. H. and Gussoni, E. (2014). Intramuscular adipogenesis is inhibited by myo-endothelial progenitors with functioning Bmpr1a signalling. Nat Commun 5: 4063.
  8. Di Costanzo, S., Balasubramanian, A., Pond, H. L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V. A., Sunu, C. M., Yu, T. W., Kang, P. B., Salih, M. A., Mora, M., Gussoni, E., Walsh, C. A. and Manzini, M. C. (2014). POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet 23(21): 5781-5792.
  9. Meng, H., Janssen, P. M., Grange, R. W., Yang, L., Beggs, A. H., Swanson, L. C., Cossette, S. A., Frase, A., Childers, M. K., Granzier, H., Gussoni, E. and Lawlor, M. W. (2014). Tissue triage and freezing for models of skeletal muscle disease. J Vis Exp(89).
  10. Schulz, T. J., Huang, P., Huang, T. L., Xue, R., McDougall, L. E., Townsend, K. L., Cypess, A. M., Mishina, Y., Gussoni, E. and Tseng, Y. H. (2013). Brown-fat paucity due to impaired BMP signalling induces compensatory browning of white fat. Nature 495(7441): 379-383.
  11. Wu, M. P., Doyle, J. R., Barry, B., Beauvais, A., Rozkalne, A., Piao, X., Lawlor, M. W., Kopin, A. S., Walsh, C. A. and Gussoni, E. (2013). G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. FEBS J 280(23): 6097-6113.
  12. Liadaki, K., Casar, J. C., Wessen, M., Luth, E. S., Jun, S., Gussoni, E. and Kunkel, L. M. (2012). beta4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem 60(1): 31-44.
  13. Lapan, A. D., Rozkalne, A. and Gussoni, E. (2012). Human fetal skeletal muscle contains a myogenic side population that expresses the melanoma cell-adhesion molecule. Hum Mol Genet 21(16): 3668-3680.
  14. Lawlor, M. W., Alexander, M. S., Viola, M. G., Meng, H., Joubert, R., Gupta, V., Motohashi, N., Manfready, R. A., Hsu, C. P., Huang, P., Buj-Bello, A., Kunkel, L. M., Beggs, A. H. and Gussoni, E. (2012). Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol 181(3): 961-968.
  15. Wu, M. P. and Gussoni, E. (2011). Carbamylated erythropoietin does not alleviate signs of dystrophy in mdx mice. Muscle Nerve 43(1): 88-93.
  16. Kang, P. B., Lidov, H. G., White, A. J., Mitchell, M., Balasubramanian, A., Estrella, E., Bennett, R. R., Darras, B. T., Shapiro, F. D., Bambach, B. J., Kurtzberg, J., Gussoni, E. and Kunkel, L. M. (2010). Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve 41(6): 746-750.
  17. Sohn, R. L., Huang, P., Kawahara, G., Mitchell, M., Guyon, J., Kalluri, R., Kunkel, L. M. and Gussoni, E. (2009). A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proc Natl Acad Sci U S A 106(23): 9274-9279.
  18. Luth, E. S., Jun, S. J., Wessen, M. K., Liadaki, K., Gussoni, E. and Kunkel, L. M. (2008). Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. J Cell Sci 121(Pt 9): 1426-1434.
  19. Yoon, S., Molloy, M. J., Wu, M. P., Cowan, D. B. and Gussoni, E. (2007). C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia. Dev Biol 301(1): 70-81.
  20. Kirillova, I., Gussoni, E., Goldhamer, D. J. and Yablonka-Reuveni, Z. (2007). Myogenic reprogramming of retina-derived cells following their spontaneous fusion with myotubes. Dev Biol 311(2): 449-463.
  21. Cerletti, M., Molloy, M. J., Tomczak, K. K., Yoon, S., Ramoni, M. F., Kho, A. T., Beggs, A. H. and Gussoni, E. (2006). Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci 119(Pt 15): 3117-3127.
  22. Frank, N. Y., Kho, A. T., Schatton, T., Murphy, G. F., Molloy, M. J., Zhan, Q., Ramoni, M. F., Frank, M. H., Kohane, I. S. and Gussoni, E. (2006). Regulation of myogenic progenitor proliferation in human fetal skeletal muscle by BMP4 and its antagonist Gremlin. J Cell Biol 175(1): 99-110.
  23. Muskiewicz, K. R., Frank, N. Y., Flint, A. F. and Gussoni, E. (2005). Myogenic potential of muscle side and main population cells after intravenous injection into sub-lethally irradiated mdx mice. J Histochem Cytochem 53(7): 861-873.
  24. Montanaro, F., Liadaki, K., Schienda, J., Flint, A., Gussoni, E. and Kunkel, L. M. (2004). Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Exp Cell Res 298(1): 144-154.
  25. Rivier, F., Alkan, O., Flint, A. F., Muskiewicz, K., Allen, P. D., Leboulch, P. and Gussoni, E. (2004). Role of bone marrow cell trafficking in replenishing skeletal muscle SP and MP cell populations. J Cell Sci 117(Pt 10): 1979-1988.
  26. Gussoni, E., Bennett, R. R., Muskiewicz, K. R., Meyerrose, T., Nolta, J. A., Gilgoff, I., Stein, J., Chan, Y. M., Lidov, H. G., Bonnemann, C. G., Von Moers, A., Morris, G. E., Den Dunnen, J. T., Chamberlain, J. S., Kunkel, L. M. and Weinberg, K. (2002). Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest 110(6): 807-814.
  27. Gussoni, E., Panzara, M. A. and Steinman, L. (2001). Evaluating human T cell receptor gene expression by PCR. Curr Protoc Immunol Chapter 10: Unit 10 26.
  28. Gussoni, E., Soneoka, Y., Strickland, C. D., Buzney, E. A., Khan, M. K., Flint, A. F., Kunkel, L. M. and Mulligan, R. C. (1999). Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature 401(6751): 390-394.
  29. Panzara, M. A., Gussoni, E., Begovich, A. B., Murray, R. S., Zang, Y. Q., Appel, S. H., Steinman, L. and Zhang, J. (1999). T cell receptor BV gene rearrangements in the spinal cords and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. Neurobiol Dis 6(5): 392-405.
  30. Miller, R. G., Sharma, K. R., Pavlath, G. K., Gussoni, E., Mynhier, M., Lanctot, A. M., Greco, C. M., Steinman, L. and Blau, H. M. (1997). Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study. Muscle Nerve 20(4): 469-478.
  31. Gussoni, E., Blau, H. M. and Kunkel, L. M. (1997). The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med 3(9): 970-977.
  32. Gussoni, E., Wang, Y., Fraefel, C., Miller, R. G., Blau, H. M., Geller, A. I. and Kunkel, L. M. (1996). A method to codetect introduced genes and their products in gene therapy protocols. Nat Biotechnol 14(8): 1012-1016.
  33. Ahn, A. H., Freener, C. A., Gussoni, E., Yoshida, M., Ozawa, E. and Kunkel, L. M. (1996). The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 271(5): 2724-2730.
  34. Noguchi, S., McNally, E. M., Ben Othmane, K., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bonnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J. M., Kunkel, L. M. and Ozawa, E. (1995). Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270(5237): 819-822.
  35. Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C. and Hoffman, E. P. (1995). Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 11(3): 266-273.
  36. Gussoni, E., Pavlath, G. K., Miller, R. G., Panzara, M. A., Powell, M., Blau, H. M. and Steinman, L. (1994). Specific T cell receptor gene rearrangements at the site of muscle degeneration in Duchenne muscular dystrophy. J Immunol 153(10): 4798-4805.
  37. Mora, M., Morandi, L., Piccinelli, A., Gussoni, E., Gebbia, M., Blasevich, F., Dworzak, F. and Cornelio, F. (1993). Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins. J Neurol 240(8): 455-461.
  38. Gussoni, E., Pavlath, G. K., Lanctot, A. M., Sharma, K. R., Miller, R. G., Steinman, L. and Blau, H. M. (1992). Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature 356(6368): 435-438.
  39. Panzara, M. A., Gussoni, E., Steinman, L. and Oksenberg, J. R. (1992). Analysis of the T cell repertoire using the PCR and specific oligonucleotide primers. Biotechniques 12(5): 728-735.
  40. Morandi, L., Mora, M., Gussoni, E., Tedeschi, S. and Cornelio, F. (1990). Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. Ann Neurol 28(5): 674-679.
1 Protocol published
Isolation of Primary Human Skeletal Muscle Cells
Authors:  Janelle M. Spinazzola and Emanuela Gussoni, date: 11/05/2017, view: 7913, Q&A: 0
Primary myoblast culture is a valuable tool in research of muscle disease, pathophysiology, and pharmacology. This protocol describes techniques for dissociation of cells from human skeletal muscle biopsies and enrichment for a highly myogenic ...
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