2026-05-22T05:27:51Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/181392024-11-28T15:19:57Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927

00925njm 22002777a 4500 dc Dhingani, Neel author Guo, Conghui author Pan, Jie author Li, Qi author Warner, Neil author Jardine, Sasha author Leung, Gabriella author Kotlarz, Daniel author Gonzaga-Jauregui, Claudia author Klein, Christoph author Snapper, Scott B. author Navas-López, Víctor Manuel author Muise, Aleixo M. author 2020-10-29 Very early onset inflammatory bowel disease (VEOIBD) denotes children with onset of IBD before six years of age. A number of monogenic disorders are associated with VEOIBD including tetratricopeptide repeat domain 7A (TTC7A) deficiency. TTC7A-deficiency is characterized by apoptotic colitis in milder cases with severe intestinal atresia and immunodeficiency in cases with complete loss of protein. We used whole exome sequencing in a VEOIBD patient presenting with colitis characterized by colonic apoptosis and no identified known VEOIBD variants, to identify compound heterozygous deleterious variants in the Ubiquitin protein ligase E3 component N-recognin 5 (UBR5) gene. Functional studies demonstrated that UBR5 co-immunoprecipitates with the TTC7A and the UBR5 variants had reduced interaction between UBR5 and TTC7A. Together this implicates UBR5 in regulating TTC7A signaling in VEOIBD patients with apoptotic colitis. 10.1038/s41598-020-73482-6 2045-2322 Scientific Reports http://hdl.handle.net/10668/3886 33122718 http://hdl.handle.net/20.500.12105/18139 Child Amino acid sequence Inflammatory bowel diseases Protein binding Ubiquitin-protein ligases Colitis Niño Secuencia de aminoácidos Enfermedades inflamatorias del intestino Unión proteica Ubiquitina-proteína ligasas The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease