Studies of Lowe syndrome patient cells, which lack the inositol 5-phosphatase OCRL, suggest that a defect in endocytosis plays a role in the pathological manifestations of the disease.

Asparagine 88 to lysine (N88K), a prevalent congenital myasthenic syndrome mutation of Rapsyn, impairs the neuromuscular junction by disrupting agrin signaling.

Primary cilia of neural crest-derived cells mediate Indian hedgehog-induced signal transduction in the periocular mesenchyme and are required for normal anterior segment development.

The functional interaction of Na⁺ and K_ATP channels at the intercalated disk of cardiomyocytes depends on Ankyrin G and is clinically relevant since K_ATP channel mutations affect Na⁺ channel expression.

Redox modification of STING represents a novel target for interferon regulation and control of herpesvirus replication.

Changes in the intracellular trafficking of key signaling molecules in endosomes lead to pathophysiology in a rare disease affecting the cerebellum.

The evaluation of a dengue early warning system demonstrates its potential to assist dengue prevention and control up to three months ahead of future epidemics.

Immature hematopoietic cells from mice with a large segmental deletion found in human myeloid malignancies exhibit cardinal features of myelodysplastic syndrome.

The 24 ankyrin repeats of ankyrin proteins form an extended solenoid that provides an extremely conserved groove for binding to numerous targets via combinatorial usage of multiple weak interaction sites.