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1.	Bigoni, S, et al. (author) The novel versican p.H2665L homozygous variation is associated with absence of cementum, early teeth loss and recessive Wagner vitreoretinopathy 2019 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 27, s. 1894-1895 Conference paper (other academic/artistic)
2.	Bigoni, S, et al. (author) Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 2019 In: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 9, s. 723- Journal article (peer-reviewed)
3.	Wein, Nicolas, et al. (author) Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 2014 In: Nature Medicine. - : Springer Science and Business Media LLC. - 1078-8956 .- 1546-170X. ; 20:9, s. 992-1000 Journal article (peer-reviewed)abstract Most mutations that truncate the reading frame of the DMD gene cause loss of dystrophin expression and lead to Duchenne muscular dystrophy. However, amelioration of disease severity has been shown to result from alternative, translation initiation beginning in DMD exon 6 that leads to expression of a highly functional N-truncated dystrophin. Here we demonstrate that this isoform results from usage of an internal ribosome entry site (IRES) within exon 5 that is glucocorticoid inducible. We confirmed IRES activity by both peptide sequencing and ribosome profiling in muscle from individuals with minimal symptoms despite the presence of truncating mutations. We generated a truncated reading frame upstream of the IRES by exon skipping, which led to synthesis of a functional N-truncated isoform in both human subject derived cell lines and in a new DMD mouse model, where expression of the truncated isoform protected muscle from contraction-induced injury and corrected muscle force to the same level as that observed in control mice. These results support a potential therapeutic approach for patients with mutations within the 5' exons of DMD.

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Type of publication: journal article (2); conference paper (1)

Type of content: peer-reviewed (2); other academic/artistic (1)

Author/Editor: Ferlini, A. (2); Salvatore, M (2); Gualandi, F (2); Brancati, F. (2); Taruscio, D (2); Rossi, R (2); show more...; Bigoni, S (2); Neri, M (2); Scotton, C (2); Farina, R (2); Sabatelli, P (2); Ognibene, D (2); Selvatici, R (2); Bosshardt, D (2); Perri, P (2); Campa, C (2); Trombelli, L (2); Zhang, J. (1); Uhlén, Mathias (1); Fang, MY (1); Jiang, CY (1); Yang, Lin (1); Jiang, C (1); Fang, M (1); Gualandi, Francesca (1); Ferlini, Alessandra (1); Zhang, JG (1); Falzarano, MS (1); De Stefano, MC (1); Falzarano, M (1); De Stefano, M (1); Flanigan, Kevin M. (1); Vita, Giuseppe (1); Messina, Sonia (1); Passarelli, Chiara (1); Wein, Nicolas (1); Vulin, Adeline (1); Maiti, Baijayanta (1); Findlay, Andrew (1); Heller, Kristin N. (1); Bakthavachalu, Baska ... (1); Wilton, Steve D. (1); Dunn, Diane M. (1); Weiss, Robert B. (1); Howard, Michael T. (1); Falzarano, Maria S. (1); Szigyarto, Christina ... (1); Rodino-Klapac, Louis ... (1); Schoenberg, Daniel R ... (1); show less...

University: Karolinska Institutet (2); Royal Institute of Technology (1)

Language: English (3)

Research subject (UKÄ/SCB): Natural sciences (1); Medical and Health Sciences (1)

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