Now showing items 1-4 of 4
Interactome of the Autoimmune Risk Protein ANKRD55
(Frontiers Media, 2019-09-18)
The ankyrin repeat domain-55 (ANKRD55) gene contains intronic single nucleotide polymorphisms (SNPs) associated with risk to contract multiple sclerosis, rheumatoid arthritis or other autoimmune disorders. Risk alleles of ...
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease
(Public Library Science 15(6) : (2019) // Article ID e1008180, 2019-06-06)
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms ...
Patient-Specific iPSC-Derived Cellular Models of LGMDR1
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...
Role of Monoubiquitylation on the Control of IκBα Degradation and NF-κB Activity
(Public Library of Science, 2011-10-12)
The NF-κB pathway is regulated by multiple post-translational modifications including phosphorylation, ubiquitylation and SUMOylation. Many of these modifications act on the natural inhibitor IκBα modulating its capacity ...