Lack of Annexin A6 exacerbates liver dysfunction and reduces lifespan of NPC1-deficient mice

Niemann-Pick type C disease (NP-C) is a lysosomal storage disorder characterized by cholesterol accumulation caused by loss-of-function mutations in the Npc1 gene. NP-C disease primarily affects the brain, causing neuronal damage and affecting motor coordination. In addition, considerable liver malfunction in NP-C disease is common. Recently, we demonstrated that the depletion of annexin A6 (ANXA6), which is most abundant in the liver and involved in cholesterol transport, ameliorated cholesterol accumulation in Npc1 mutant cells.

Source: American Journal of Pathology - December 17, 2020 Category: Pathology Authors: Elsa Meneses-Salas, Marta Garcia-Forn, Carla Castany-Pladevall, Albert Lu, Alba Fajardo, Jaimy Jose, Mohamed Wahba, Marta Bosch, Albert Pol, Francesc Tebar, Andr és D. Klein, Silvana Zanlungo, Esther Pérez-Navarro, Thomas Grewal, Carlos Enrich, Carles R Source Type: research