Article

Physiological Significance of WDR45, A Responsible Gene for β-propeller Protein Associated Neurodegeneration (BPAN), in Brain Development

2020-12-30

Abstract excerpt

WDR45 plays an essential role in the early stage of autophagy. De novo heterozygous mutations in WDR45 have been known to cause b-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA). Although BPAN patients display global developmental delay including intellectual disability, neurodevelopmental pathophysiology of BPAN remains largely unknown. In...

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Literature Corpus work: b434ffcd-c40b-5590-933a-fde1fbed2376
DOI: 10.21203/rs.3.rs-132972/v1

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