Project description:SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily. The exact functional significance and expression pattern of this gene remains unknown. Here we report a perinatal lethal phenotype associated with biallelic loss of function variants in SERPINA11, and characterised by gross and histopathological features of extracellular matrix disruption. We found SERPINA11 protein expression in multiple mouse tissues and human fetal lungs. Immunofluorescence of the affected fetal lung revealed markedly reduced expression of SERPINA11 protein compared with healthy, gestation matched human fetal lung. Protein expression data from HEK293T cell lines following site directed mutagenesis is also presented to support the loss of function nature of the variant. This novel serpinopathy appears to be a consequence of loss of inhibition of serine proteases involved in extracellular matrix remodelling, revealing SERPINA11 as a protease inhibitor critical for embryonic development.

2023-11-12 | GSE247296 | GEO

Central nervous system involvement in AIDS-related lymphomas.

Project description: Not available

| S-EPMC4900917 | biostudies-literature

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Project description: Not available

| S-EPMC11065596 | biostudies-literature

Chanarin-dorfman syndrome with multi-system involvement in two siblings.

Project description: Not available

| S-EPMC3781670 | biostudies-literature