Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.

ABSTRACT: Fabry disease (FD) is an X-linked lysosomal storage disease, caused by mutations in the GLA gene on the X chromosome, resulting in a deficiency of the lysosomal enzyme α-GAL. This leads to the progressive accumulation of Gb3 in cells, causing multi-systemic effects. FD has been classified as a subgroup of autoinflammatory diseases. NF-κB is a family of ubiquitous and inducible transcription factors that play critical roles in inflammation, in which the p65/p50 heterodimer is the most abundant. The glucocorticoid receptor (GR) represents the physiological antagonists in the inflammation process. A novel spliced variant of p65, named p65 iso5, which can bind the dexamethasone, enhancing GR activity, has been found. This study investigates the potential role of p65 iso5 in the inflamma

SUBMITTER: Biddeci G 

PROVIDER: S-EPMC11817417 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature