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A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare disease that exhibits brain modifications and motor dysfunctions in early childhood. The condition is caused by a homozygous or compound heterozygous mutation in fatty acid 2 hydroxylase (FA2H), whose encoded protein synthesizes 2-...
Autores principales: | Mandik, Frida, Kanana, Yuliia, Rody, Jost, Misera, Sophie, Wilken, Bernd, Laabs von Holt, Björn-Hergen, Klein, Christine, Vos, Melissa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9794614/ https://www.ncbi.nlm.nih.gov/pubmed/36589738 http://dx.doi.org/10.3389/fcell.2022.1000553 |
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