Year: 2013
Type: article
Abstract: Tumor Necrosis Factor Receptor (TNFR) Associated Periodic Syndrome (TRAPS) is a dominant autoinflammatory disorder caused by heterozygous mutations in TNFRSF1A , the gene encoding the TNFalpha receptor 1 (TNFR1). TNFRSF1A mutations induce aberrant localization and accumulation in aggregates of the mutant TNFR1 proteins, elevated levels of reactive oxygen species (ROS) and excessive inflammatory response. In accordance to the emerging role of autophagy in inflammatory response, we have recently demonstrated that mutant TNFR1 accumulation is due to a defective autophagy function, the main cellular mechanism involved in the elimination of cellular inclusions containing mutant proteins.
Source: Pediatric Rheumatology
Institutions: Istituto Giannina Gaslini, Ospedale Policlinico San Martino, University of Florence, Sanford Burnham Prebys Medical Discovery Institute, Telethon Institute Of Genetics And Medicine, Baylor College of Medicine, Texas Children's Hospital, University of Naples Federico II, University of Genoa
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W1977572473