Selenoprotein N in skeletal muscle: from diseases to function

  title={Selenoprotein N in skeletal muscle: from diseases to function},
  author={Perrine Castets and Alain Lescure and Pascale Guicheney and Val{\'e}rie Allamand},
  journal={Journal of Molecular Medicine},
Selenoprotein N (SelN) deficiency causes several inherited neuromuscular disorders collectively termed SEPN1-related myopathies, characterized by early onset, generalized muscle atrophy, and muscle weakness affecting especially axial muscles and leading to spine rigidity, severe scoliosis, and respiratory insufficiency. SelN is ubiquitously expressed and is located in the membrane of the endoplasmic reticulum; however, its function remains elusive. The predominant expression of SelN in human… CONTINUE READING