Muscle function & homeostasis / molecular therapeutic approaches

The Y-box binding protein 3 (YBX3) has been described as a transcriptional regulator and translational repressor of various proteins in skeletal and heart muscle. Its functions include, among others, the gradual repression of myogenin during myogenesis. By exome sequencing in a Finnish patient with an unusual form of nemaline myopathy, we have found two rare YBX3 variants, NP_003642.3:p.(Ser34Arg) and NP_003642.3:p.(Arg129Trp). Our previous results have shown that the variants affect the localisation of the protein and its post-translational modifications in transiently transfected cell cultures.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: L. Sagath, J. Blondelle, J. Laitila, V. Lehtokari, K. Kiiski, M. Gr önholm, C. Wallgren-Pettersson, S. Lange, K. Pelin Source Type: research