Over 40% of CDKN2A variants of uncertain significance identified in patients with pancreatic cancer are functionally deleterious and can be reclassified as likely pathogenic with implications for care of patients and their relatives.

Enhanced proteasomal degradation of TNFAIP3 proteins carrying missense variations is one of the pathophysiological mechanisms underlying HA20.

PS1 phosphorylation at Ser367 is the potential hyperactivity-driven culprit of pathogenic change in PS1 conformation in vitro and in vivo.

An atmospheric trigger, the respirable particulate matter boost microglia pathogenic activities in the context of CNS demyelination by activating TLR-4/NF-kB signaling axis in animal models of immune- and toxicity-induced demyelination, as well as myelinogenesis during postnatal development.

Rare SARM1 alleles encoding SARM1 variants that have constitutively high NADase activity and sensitise cultured neurons to mild stress are risk alleles for ALS and other, related motor disorders.

The failure to replicate key findings from an important report on transgenerational inheritance in Caenorhabditis elegans raises concerns about the robustness and ecological significance of the previously reported results.

Potential commensalism between saprophytic and pathogenic Leptospira within a vertebrate host protects against severe leptospirosis and improves kidney homeostasis which helps Leptospira interrogans complete its enzootic cycle.

Dominant optic atrophy (DOA) and DOA plus mutations' effects on optic nerve degeneration distinguished in a novel Drosophila model.

Mouse in vivo and in vitro analysis and human genetic screening highlight the role of anti-Müllerian hormone (AMH) signaling in GnRH neuronal development and function, and identify mutations in AMH and AMHR2 in CHH patients.

Multi-site FRET measurements of moPrP oligomerization at low pH indicate that major conformational changes take place as monomers reversibly transform into large oligomers, which subsequently disassemble reversibly into small oligomers.