Cryptic exon activation causes dystrophinopathy in two Chinese families
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0578-z
Abstract: The X-linked recessive degenerative disease dystrophinopathy results from variants in the DMD gene. Given the large size and complexity of the DMD gene, molecular diagnosis for all dystrophinopathies remains challenging. Here we identified two cryptic… read more here.
Keywords: causes dystrophinopathy; exon activation; two chinese; activation causes ... See more keywords
TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Biology"
DOI: 10.1371/journal.pbio.3002028
Abstract: A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of cryptic exons during RNA splicing. One of these cryptic exons is in UNC13A, a genetic risk factor for amyotrophic lateral sclerosis… read more here.
Keywords: als ftd; risk; cryptic exon; inclusion ... See more keywords