SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 …

M Marino, T Stoilova, C Giorgi, A Bachi… - Human molecular …, 2015 - academic.oup.com
Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic
reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease. We …

[HTML][HTML] Calcium and redox liaison: a key role of Selenoprotein N in skeletal muscle

E Zito, A Ferreiro - Cells, 2021 - mdpi.com
Selenoprotein N (SEPN1) is a type II glycoprotein of the endoplasmic reticulum (ER) that
senses calcium levels to tune the activity of the sarcoplasmic reticulum calcium pump …

[HTML][HTML] Selenoprotein N deficiency in mice is associated with abnormal lung development

B Moghadaszadeh, BE Rider, MW Lawlor… - The FASEB …, 2013 - ncbi.nlm.nih.gov
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-
related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and …

[HTML][HTML] A maladaptive ER stress response triggers dysfunction in highly active muscles of mice with SELENON loss

D Pozzer, E Varone, A Chernorudskiy, S Schiarea… - Redox Biology, 2019 - Elsevier
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of
function leads to human SELENON-related myopathies. SelenoN knockout (KO) mouse limb …

[HTML][HTML] Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

M Rederstorff, P Castets, S Arbogast, J Lainé… - PloS one, 2011 - journals.plos.org
Selenium is an essential trace element and selenoprotein N (SelN) was the first selenium-
containing protein shown to be directly involved in human inherited diseases. Mutations in …

[HTML][HTML] SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA

S Germani, AT Van Ho, A Cherubini, E Varone… - Cell Reports …, 2024 - cell.com
Selenoprotein N (SEPN1) is a protein of the endoplasmic reticulum (ER) whose inherited
defects originate SEPN1-related myopathy (SEPN1-RM). Here, we identify an interaction …

[HTML][HTML] SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

E Varone, D Pozzer, S Di Modica, A Chernorudskiy… - Redox biology, 2019 - Elsevier
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of
function leads to a congenital myopathy associated with insulin resistance (SEPN1-related …

Oxidative stress in SEPN1‐related myopathy: From pathophysiology to treatment

S Arbogast, M Beuvin, B Fraysse… - Annals of Neurology …, 2009 - Wiley Online Library
Objective Mutations of the selenoprotein N gene (SEPN1) cause SEPN1‐related myopathy
(SEPN1‐RM), a novel early‐onset muscle disorder formerly divided into four different …

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis

S Arbogast, A Ferreiro - Antioxidants & redox signaling, 2010 - liebertpub.com
Healthy cells continually produce low levels of reactive oxygen species (ROS), which are
buffered by multiple antioxidant systems. Imbalance between ROS production and …

Selenoprotein function and muscle disease

A Lescure, M Rederstorff, A Krol, P Guicheney… - … et Biophysica Acta (BBA …, 2009 - Elsevier
The crucial role of the trace element selenium in livestock and human health, in particular in
striated muscle function, has been well established but the underlying molecular …