A5027227493- Chronic Lymphocytic Leukemia Research
- Renal Diseases and Glomerulopathies
- PI3K/AKT/mTOR signaling in cancer
- Cellular transport and secretion
- Cancer Genomics and Diagnostics
- Renal and related cancers
- RNA regulation and disease
- Monoclonal and Polyclonal Antibodies Research
- RNA Interference and Gene Delivery
- Endoplasmic Reticulum Stress and Disease
Uniformed Services University of the Health Sciences
2023
Meharry Medical College
2015-2021
The apolipoprotein L1 (APOL1) gene product is toxic to kidney cells, and its G1 G2 alleles are strongly associated with increased risk for disease progression in African Americans. Variable penetrance of the highlights significance additional factors that trigger or modify disease. In this regard, effect alternative splicing absence presence unknown. study we investigated whether non-G1, non-G2 APOL1 (APOL1 G0) affects biological activity. Among seven exons, exons 2 4 differentially...
Abstract APOL1 risk alleles G1 or G2 are associated with a kidney disease phenotype exclusively in people of recent African ancestry. Here we show that exon 4 encoding part the signal peptide is constitutively spliced major transcripts expressed glomerular and tubular cells. We demonstrate constitutive splicing results from suboptimal hnRNP A1 binding motif found 4. Accordingly, robust protein to consensus cis-acting element almost complete exclusion minigene transcripts. Blocking 5′ splice...
Two variants at the
In mammalian cells, misfolded glycosylphosphatidylinositol (GPI)-anchored proteins (GPI-APs) are cleared out of the ER to Golgi via a constitutive and stress-inducible pathway called RESET. From Golgi, GPI-APs transiently access cell surface prior rapid internalization for lysosomal degradation. What regulates release RESET during steady-state conditions how this is accelerated stress unknown. Using mutants prion protein or CD59 as model GPI-APs, we demonstrate that inducing calnexin...