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Article

Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts.

International journal of molecular sciences - 28 Oct 2021

Lee Hye Eun, Jung Min Kyo, Noh Seul Gi, Choi Hye Bin, Chae Se Hyun, Lee Jae Hyeok, Mun Ji Young

Abstract excerpt

Iron overload in the brain, defined as excess stores of iron, is known to be associated with neurological disorders. In neurodegeneration accompanied by brain iron accumulation, we reported a specific point mutation, c.974-1G>A in WD Repeat Domain 45 (WDR45), showing iron accumulation in the brain, and autophagy defects in the fibroblasts. In this study, we investigated whether fibroblasts with mutated WDR45...

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Identifiers

PMID: 34769084
DOI: 10.3390/ijms222111650
PMCID: PMC8584078

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