SQSTM1 and amyotrophic lateral sclerosis: To this end, few p62 mutations that lead to disease have been identified, such as those in Paget’s disease of bone and Amyotrophic Lateral Sclerosis (ALS) (Kwok et al., 2014; Seton et al., 2016; Ma et al., 2019); however, the effects due to complete loss, overexpression, protein-protein interaction disruptions, or mislocalization of the protein have been explored experimentally.