Anna Bartoletti-Stella, Laura Gasparini, Caterina Giacomini, Patrizia Corrado, Rossana Terlizzi, Elisa Giorgio, Pamela Magini, Marco Seri, Agostino Baruzzi, Piero Parchi, Alfredo Brusco, Pietro Cortelli, Sabina Capellari
Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by autonomic dysfunction, followed by cerebellar and pyramidal features. ADLD is caused by duplication of the lamin B1 gene (LMNB1), which leads to its increased expression. The molecular pathways involved in the disease are still poorly understood. Hence, we analyzed global gene expression in fibroblasts and whole blood of LMNB1 duplication carriers and used Gene Set Enrichment Analysis to explore their gene signatures...
May 15, 2015: Human Molecular Genetics