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000280907 1001_ $$00000-0002-8462-0690$$aEfendic, Fatima$$b0
000280907 245__ $$aDisrupted Myelination in FAHN: Insights from a Patient-Specific hiPSC Neuron-Oligodendrocyte Model.
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000280907 520__ $$aFatty-acid-hydroxylase-associated neurodegeneration (FAHN) is a rare neurodegenerative disorder caused by loss-of-function mutations in the FA2H gene, leading to impaired enzymatic activity and resulting in myelin sheath instability, demyelination, and axonal degeneration. In this study, we established a human in vitro model using neurons and oligodendrocytes derived from induced pluripotent stem cells (hiPSCs) of a FAHN patient. This coculture system enabled the investigation of myelination processes and myelin integrity in a disease-relevant context. Analyses using immunofluorescence and Western blot revealed impaired expression and localisation of key myelin proteins in oligodendrocytes and cocultures. FA2H-deficient cells showed reduced myelination, shortened internodes, and disrupted formation of the nodes of Ranvier. Additionally, we identified autophagy defects-a hallmark of many neurodegenerative diseases-including reduced p62 expression, elevated LC3B levels, and impaired fusion of autophagosomes with lysosomes. This study presents a robust hiPSC-based model to study FAHN, offering new insights into the molecular pathology of the disease. Our findings suggest that FA2H mutations compromise both the structural integrity of myelin and the efficiency of the autophagic machinery, highlighting potential targets for future therapeutic interventions.
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000280907 650_7 $$2Other$$aFA2H
000280907 650_7 $$2Other$$aFAHN
000280907 650_7 $$2Other$$aautophagy
000280907 650_7 $$2Other$$ademyelination
000280907 650_7 $$2Other$$ainduced pluripotent stem cells
000280907 650_7 $$2Other$$amyelin proteins
000280907 650_7 $$2Other$$aneurons
000280907 650_7 $$2Other$$aoligodendrocytes
000280907 650_7 $$0EC 1.-$$2NLM Chemicals$$aMixed Function Oxygenases
000280907 650_2 $$2MeSH$$aHumans
000280907 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: metabolism
000280907 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: pathology
000280907 650_2 $$2MeSH$$aMyelin Sheath: metabolism
000280907 650_2 $$2MeSH$$aMyelin Sheath: pathology
000280907 650_2 $$2MeSH$$aNeurons: metabolism
000280907 650_2 $$2MeSH$$aNeurons: pathology
000280907 650_2 $$2MeSH$$aOligodendroglia: metabolism
000280907 650_2 $$2MeSH$$aOligodendroglia: pathology
000280907 650_2 $$2MeSH$$aAutophagy
000280907 650_2 $$2MeSH$$aModels, Biological
000280907 650_2 $$2MeSH$$aNeurodegenerative Diseases: pathology
000280907 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000280907 650_2 $$2MeSH$$aNeurodegenerative Diseases: metabolism
000280907 650_2 $$2MeSH$$aMutation: genetics
000280907 650_2 $$2MeSH$$aMixed Function Oxygenases: genetics
000280907 650_2 $$2MeSH$$aMixed Function Oxygenases: metabolism
000280907 650_2 $$2MeSH$$aCoculture Techniques
000280907 7001_ $$0P:(DE-2719)2811732$$aHermann, Andreas$$b1
000280907 7001_ $$00000-0003-2421-8779$$aFrech, Moritz J$$b2
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