NUCLEAR STRUCTURE, FUNCTION & DISEASE
We study the structure and function of the Cell Nucleus in health and disease. The nuclear pore complex (NPC) is a nanometric scale gateway that controls molecular traffic between the two major cellular compartments: the nucleus and the cytoplasm. NPCs are embedded in the double membranes of the nuclear envelope and affect many aspects of normal physiology and human disease.
Our research is focused on 3 biological questions
How is the NPC assembled and integrated into the nuclear envelope?
How are large cellular cargoes and viruses targeted for passage through the NPC channel?
What are the molecular mechanisms underlying neurodegenerative human diseases caused by mutations in nuclear envelope and NPC components?
peek into our research world
1. G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD. Coyne AN, Zaepfel BL, Hayes L et al.
2. Combined loss of LAP1B and LAP1C results in an early onset multisystematic nuclear envelopathy. Fichtman B, Zagairy F, Biran N et al.
3. Pathogenic variants in NUP214 cause “Plugged”nuclear pore channels and acute febrile encephalopathy. Fichtman B, Harel T, Biran N et al.
4. Perturbations in traffic: aberrant nucleocytoplasmic traffic at the heart of neurodegeneration. Fahrenkrog B, Harel A.