RT Journal Article
T1 The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease
A1 Dhingani, Neel
A1 Guo, Conghui
A1 Pan, Jie
A1 Li, Qi
A1 Warner, Neil
A1 Jardine, Sasha
A1 Leung, Gabriella
A1 Kotlarz, Daniel
A1 Gonzaga-Jauregui, Claudia
A1 Klein, Christoph
A1 Snapper, Scott B.
A1 Navas-López, Víctor Manuel
A1 Muise, Aleixo M.
K1 Child
K1 Amino acid sequence
K1 Inflammatory bowel diseases
K1 Protein binding
K1 Ubiquitin-protein ligases
K1 Colitis
K1 Niño
K1 Secuencia de aminoácidos
K1 Enfermedades inflamatorias del intestino
K1 Unión proteica
K1 Ubiquitina-proteína ligasas
AB 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.
PB Springer Nature
YR 2020
FD 2020-10-29
LK http://hdl.handle.net/10668/3886
UL http://hdl.handle.net/10668/3886
LA en
NO Dhingani N, Guo C, Pan J, Li Q, Warner N, Jardine S, et al. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. Sci Rep. 2020 Oct 29;10(1):18648
DS RISalud
RD Apr 15, 2025