Giacomo Bitetto, Dario Ronchi, Sara Bonato, Alessandra Pittaro, Giacomo Monzio Compagnoni, Andreina Bordoni, Sabrina Salani, Emanuele Frattini, Gianluca Lopez, Fulvia Milena Cribiù, Stefania Corti, Giacomo P Comi, Nereo Bresolin, Alessio Di Fonzo
Allgrove syndrome (AS) is a rare disease with broad neurological involvement. Neurodegeneration can affect spinal motor neurons, Purkinje cells, striatal neurons, and the autonomic system. The mechanisms that lead to neuronal loss are still unclear. Recessive mutations in the AAAS gene affect the encoded protein Aladin, which would normally localize to the cytoplasmic face of the nuclear membrane as part of the nuclear pore complex (NPC). While the NPC is known to be a key factor for nucleo-cytoplasmic transport, the precise role of Aladin has not been elucidated yet...
October 10, 2019: Human Molecular Genetics