Ontology highlight
ABSTRACT:
SUBMITTER: Yu R
PROVIDER: S-EPMC11358823 | biostudies-literature | 2024 Sep
REPOSITORIES: biostudies-literature
Yu Reynold R Xue Huijing H Lin Wanru W Collins Francis S FS Mount Stephen M SM Cao Kan K
NAR genomics and bioinformatics 20240829 3
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease caused primarily by a C1824T mutation in <i>LMNA</i>. This mutation activates a cryptic splice donor site, producing a lamin variant called progerin. Interestingly, progerin has also been detected in cells and tissues of non-HGPS patients. Here, we investigated progerin expression using publicly available RNA-seq data from non-HGPS patients in the GTEx project. We found that progerin expression is present across all tissue ...[more]