WebThe CRBN nonsense mutation (R419X) results in a protein lacking 24 amino acids at its C terminus. Although this mutation has been linked to mild mental retardation, the mechanism by which the mutation affects CRBN function is unknown. Here, we used biochemical and mass spectrometric approaches to explore the function of this mutant. WebSep 7, 2024 · Cereblon protein (CRBN) is the receptor for substrates that bind to the CRL4CRBN E3 ubiquitin ligase complex, whose function is to control the selective degradation of proteins during various cellular processes. Some CRBN mutations associated with clinical cases of intellectual disability have been reported.
A Mental Retardation-linked Nonsense Mutation in Cereblon Is …
WebFor instance, loss-of-function (LOF) and missense mutations in the IMiD-binding domain of CRBN confer resistance to IMiDs, which have been observed in multiple myeloma patients refractory to lenalidomide and pomalidomide. Additionally, multiple studies have shown that loss of other UPS components or chaperones can interfere with TPD WebThe gene view histogram is a graphical view of mutations across CRBN. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by … ia groupe financier rimouski
Expression, mutation, and methylation of cereblon‐pathway …
WebApr 4, 2024 · Mutations in the cereblon (CRBN) gene cause human intellectual disability, one of the most common cognitive disorders.However, the molecular mechanisms of CRBN-related intellectual disability remain poorly understood.We investigated the role of CRBN in synaptic function and animal behavior using male mouse and Drosophila models.Crbn … WebMar 21, 2024 · Entrez Gene Summary for CRBN Gene. This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is … WebDec 6, 2014 · XBP-1, CRBN, IZKF, IRF4). The amplicons are spread across 21 chromosomes, allowing the identification of copy-number changes in these regions. ... One newly diagnosed and len refractory Pt harbored a subclonal CRBN mutation (Asn316Lys, allelic fraction [AF] 20%) as well as 4 clonal IRF4 mutations within the DNA binding … iagsdc history wiki