Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA), which leads to complex multisystemic involvement, with the majority of patients developing hypertrophic cardiomyopathy.

Early dysfunction of the endothelial/blood-brain barrier (BBB) is involved in the pathogenesis of cerebral small vessel disease (SVD), which is a contributor to about 50% of dementias. Sphingosine-1-phosphate (S1P) is a sphingolipid that regulates the BBB integrity when bound to its receptor S1P1 on endothelial cells.

Tumor immune evasion mechanisms could be reversed by activating intracellular antiviral immune responses. It has been reported that the use of DNA methyltransferase (DNMT) inhibitors combined with poly(ADP ribose) polymerase (PARP) inhibitors activated stimulator of interferon genes (STING) signaling pathway in a process named pathogen mimicry response.

Hepatocellular carcinoma (HCC) is an aggressive disease that accounts for 80%-90% of all primary liver cancers. Previous findings have shown fibroblast growth factor 19 (FGF-19) to be overexpressed in up to 30% of HCC cases, exerting its oncogenic effect through its receptors fibroblast growth factor receptor 3 (FGFR3) and FGFR4.

Researchers from Nanjing Drum Tower Hospital reported findings from their evaluation of the role of NLR family CARD domain containing 5 (NLRC5) in post-stroke neuroinflammation. Immunofluorescence staining of mouse brains revealed that NLRC5 was mainly expressed in microglia.

Mesenchymal-epithelial transition factor (MET) plays a relevant role in growth, survival, migration and tissue repair. Alterations in MET have been found in non-small-cell lung cancer and head and neck cancer, and are associated with aggressive and difficult-to-treat cancer types.

Scientists at the University of Wisconsin Madison and Dana-Farber Cancer Institute recently presented preclinical data for the radiopharmaceutical therapy candidate [177Lu]PNT-6555.