{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tran V"],"funding":["Cancer Research UK","Medical Research Council","Gouvernement du Canada | Canadian Institutes of Health Research"],"pagination":["7077"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9674853"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["Myoblast fusion is fundamental for the development of multinucleated myofibers. Evolutionarily conserved proteins required for myoblast fusion include RAC1 and its activator DOCK1. In the current study we analyzed the contribution of the DOCK1-interacting ELMO scaffold proteins to myoblast fusion. When Elmo1<sup>-/-</sup> mice underwent muscle-specific Elmo2 genetic ablation, they exhibited severe myoblast fusion defects. A mutation in the Elmo2 gene that reduced signaling resulted in a decrease in myoblast fusion. Conversely, a mutation in Elmo2 coding for a protein with an open conformation increased myoblast fusion during development and in muscle regeneration. Finally, we showed that the dystrophic features of the Dysferlin-null mice, a model of limb-girdle muscular dystrophy type 2B, "],"journal":["Nature communications"],"pubmed_title":["Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration."],"pmcid":["PMC9674853"],"funding_grant_id":["24307","MC_UP_1201/6","PJT-159481","PJT-162143","PJT-148516","PJT-153065","DRCRPG-Jun22\\100004","14109"],"pubmed_authors":["Cote JF","Ehresmann S","Tran V","Barford D","Robert A","Kmita M","Smith MJ","Killoran R","Ravichandran KS","Thibault MP","Sauvageau M","Nahle S","Desanlis I"],"additional_accession":[]},"is_claimable":false,"name":"Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration.","description":"Myoblast fusion is fundamental for the development of multinucleated myofibers. Evolutionarily conserved proteins required for myoblast fusion include RAC1 and its activator DOCK1. In the current study we analyzed the contribution of the DOCK1-interacting ELMO scaffold proteins to myoblast fusion. When Elmo1<sup>-/-</sup> mice underwent muscle-specific Elmo2 genetic ablation, they exhibited severe myoblast fusion defects. A mutation in the Elmo2 gene that reduced signaling resulted in a decrease in myoblast fusion. Conversely, a mutation in Elmo2 coding for a protein with an open conformation increased myoblast fusion during development and in muscle regeneration. Finally, we showed that the dystrophic features of the Dysferlin-null mice, a model of limb-girdle muscular dystrophy type 2B, ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2026-05-27T20:39:13.16Z","creation":"2025-04-21T14:16:27.009Z"},"accession":"S-EPMC9674853","cross_references":{"pubmed":["36400788"],"doi":["10.1038/s41467-022-34806-4"]}}