Photo by davegoudreau from unsplash
Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result… Click to show full abstract
Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult‐onset muscular dystrophy. These conditions are adult‐onset diseases and result from the substitution of Aspartate 40 (Asp40) for an apolar residue in the intrinsically disordered domain (IDD) of ANXA11. Some ALS‐related variants are known to affect ANXA11 IDD; however, the mechanism by which the myopathy occurs is unknown.
Keywords:
pathophysiology anxa11;
disorders caused;
anxa11 disorders;
anxa11;
caused aspartate;
common pathophysiology
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!