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WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
Static encephalopathy of childhood with neurodegeneration in adulthood/β-propeller protein-associated neurodegeneration is a neurodegenerative disorder with brain iron accumulation caused by the variants of WDR45, a core autophagy-related gene that encodes WD repeat domain phosphoinositide interacti...
Autores principales: | Tsukida, Kiwako, Muramatsu, Shin-ichi, Osaka, Hitoshi, Yamagata, Takanori, Muramatsu, Kazuhiro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897194/ https://www.ncbi.nlm.nih.gov/pubmed/36751498 http://dx.doi.org/10.1093/braincomms/fcac304 |
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