Universität Rostock, 2022
Abstract: Niemann-Pick type C (NP-C) disease is a neurovisceral lysosomal storage disorder. In neurally differentiated iPSCs, disturbances in the transport of mitochondria and lysosomes were detected. In addition, degradation of mitochondria via mitophagy, as well as other material via autophagy, was reduced, which was due to problems in the induction of these processes. Thus, improved recognition of material to be degraded, may offer a promising new avenue of intervention to positively impact the pathophysiology of NP-C.
doctoral thesis free access