TY  - BOOK
AU  - Efendic, Fatima
PY  - 2024
DA  - 2024//
TI  - In vitro disease modeling and pathophysiological characterization of fatty acid hydroxylase-associated neurodegeneration
PB  - Universität Rostock
CY  - Rostock
AB  - Demyelination and neurodegeneration are key features of FAHN, a rare disorder caused by FA2H gene mutations. These mutations reduce enzymatic activity, leading to myelin instability, demyelination, and axonal degradation. In this study, we derived neurons and oligodendrocytes from FAHN patient hiPSCs and cocultured them to examine myelination in vitro. FA2H-deficient cells showed impaired myelination, with lower myelin protein levels and altered axonal structures, including shorter internodes and irregular Ranvier nodes.<eng>
UR  - https://purl.uni-rostock.de/rosdok/id00005108
UR  - https://nbn-resolving.org/urn:nbn:de:gbv:28-rosdok_id00005108-0
UR  - https://d-nb.info/1390450112/34
UR  - https://doi.org/10.18453/rosdok_id00005108
DO  - 10.18453/rosdok_id00005108
LA  - English
N1  - vorgelegt von Fatima Efendic
ID  - 1960569430
ER  -