Ezzat Hashemi, Isha Narain Srivastava, Alejandro Aguirre, Ezra Tilahan Yoseph, Esha Kaushal, Avni Awani, Jae Kyu Ryu, Katerina Akassoglou, Shahrzad Talebian, Pauline Chu, Laura Pisani, Patricia Musolino, Lawrence Steinman, Kristian Doyle, William H Robinson, Orr Sharpe, Romain Cayrol, Paul Orchard, Troy Lund, Hannes Vogel, Max Lenail, May Htwe Han, Joshua Leith Bonkowsky, Keith P Van Haren
OBJECTIVE: We sought to create and characterize a mouse model of the inflammatory, cerebral demyelinating phenotype of X-linked adrenoleukodystrophy (ALD) that would facilitate the study of disease pathogenesis and therapy development. We also sought to cross-validate potential therapeutic targets such as fibrin, oxidative stress, and the NLRP3 inflammasome, in post-mortem human and murine brain tissues. BACKGROUND: ALD is caused by mutations in the gene ABCD1 encoding a peroxisomal transporter...
November 10, 2023: bioRxiv