dc.contributor.author | Mateos Aierdi, Alba Judith | |
dc.contributor.author | Dehesa Etxebeste, Martxel Pedro | |
dc.contributor.author | Goicoechea Bianchi, María | |
dc.contributor.author | Aiastui, Ana | |
dc.contributor.author | Richaud-Patin, Yvonne | |
dc.contributor.author | Jiménez Delgado, Senda | |
dc.contributor.author | Raya, Ángel | |
dc.contributor.author | Naldaiz Gastesi, Neia | |
dc.contributor.author | López de Munain Arregui, Adolfo José | |
dc.date.accessioned | 2021-05-19T08:15:54Z | |
dc.date.available | 2021-05-19T08:15:54Z | |
dc.date.issued | 2021-04-08 | |
dc.identifier.citation | Stem Cell Research 53 : (2021) // Article ID 102333 | es_ES |
dc.identifier.issn | 1876-7753 | |
dc.identifier.uri | http://hdl.handle.net/10810/51481 | |
dc.description.abstract | Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations reported to date. However, the molecular events that lead to muscle wasting are not clear, nor the reasons for the great clinical variability among patients, and this has so far hindered the development of effective therapies. Here we generate human induced pluripotent stem cells (iPSCs) from skin fibroblasts of 2 healthy controls and 4 LGMDR1 patients with different mutations. The generated lines were able to differentiate into myogenic progenitors and myotubes in vitro and in vivo, upon a transient PAX7 overexpressing protocol. Thus, we have generated myogenic cellular models of LGMDR1 that harbor different CAPN3 mutations within a human genetic background, and which do not derive from muscular biopsies. These models will allow us to investigate disease mechanisms and test therapies. Despite the variability found among iPSC lines that was unrelated to CAPN3 mutations, we found that patient-derived myogenic progenitors and myotubes express lower levels of DMD, which codes a key protein in satellite cell regulation and myotube maturation. | es_ES |
dc.description.sponsorship | This work has been funded by grants from Ilundain Foundation, Isabel Gemio Foundation, Fundació La Caixa, Basque Government (2015111038), Catalan Government (2017-SGR-899 and CERCA Programme), Provincial Council of Gipuzkoa (A.LdM 114/17), and Instituto de Salud Carlos III (PI14/00436, PS09/00660 and RD16/0011/0024). A.M.-A and N.N.-G. received a studentship from the Department of Education, University and Research of the Basque Government (BFI-2012-19, PRE2013-1-1168) | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.subject | CAPN3 | es_ES |
dc.subject | dystrophin | es_ES |
dc.subject | induced pluripotent stem cells | es_ES |
dc.subject | LGMDR1 | es_ES |
dc.subject | skeletal muscle | es_ES |
dc.title | Patient-Specific iPSC-Derived Cellular Models of LGMDR1 | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is available under the Creative Commons CC-BY-NC-ND license | es_ES |
dc.rights.holder | Atribución-NoComercial-SinDerivadas 3.0 España | * |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S1873506121001793?via%3Dihub#! | es_ES |
dc.identifier.doi | 10.1016/j.scr.2021.102333 | |
dc.departamentoes | Bioquímica y biología molecular | es_ES |
dc.departamentoes | Neurociencias | es_ES |
dc.departamentoeu | Biokimika eta biologia molekularra | es_ES |
dc.departamentoeu | Neurozientziak | es_ES |