@Book{1960569430,
author="Efendic, Fatima",
title="In vitro disease modeling and pathophysiological characterization of fatty acid hydroxylase-associated neurodegeneration",
year="2024",
address="Rostock",
abstract="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>",
school="Universit{\"a}t Rostock",
note="vorgelegt von Fatima Efendic",
note="GutachterInnen: Andreas Wree (Institut f{\"u}r Anatomie, Universit{\"a}tsmedizin Rostock) ; Philip Seibler (Institute of Neurogenetics, University of L{\"u}beck) ; Andreas Hermann (Klinik und Poliklinik f{\"u}r Neurologie, Universit{\"a}tsmedizin Rostock)",
note="Dissertation Universit{\"a}t Rostock 2025",
doi="10.18453/rosdok_id00005108",
url="https://purl.uni-rostock.de/rosdok/id00005108",
url="https://nbn-resolving.org/urn:nbn:de:gbv:28-rosdok_id00005108-0",
url="https://d-nb.info/1390450112/34",
url="https://doi.org/10.18453/rosdok_id00005108",
language="English"
}