Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.

"Declarations Conflict of interestThe authors declare no conflict of interest. Ethics approvalThe study was moreover reviewed and approved by the institutional ethics board of the University Medicine Essen (No. 19–9011-BO). Research involving human and/or animal participantsThis study was conducted under the animal welfare guidelines of the University Duisburg Essen, Germany. Furthermore, the use of the SMA mouse model was approved by the State Agency for Nature, Environment and Consumer Protection (LANUV) in North Rhine-Westphalia (reference number 81.02.04.2020.A335). Conflict of interest The authors declare no conflict of interest."

"Funding Open Access funding enabled and organized by Projekt DEAL. This research was funded by the Myelin Repair Foundation and the European Regional Development Fund (ERDF; project NME-GPS) as well as the German Society for Muscular Diseases (DGM; grant to AR and USS)."