Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl

Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl

Abstract Background Beta‐propeller protein‐associated neurodegeneration (BPAN, OMIM 300894) is an X‐linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we repor...

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Bibliographic Details
Main Authors: Qiuhong Xiong, Wenjing Li, Ping Li, Zhonghua Zhao, Changxin Wu, Han Xiao
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autophagy
BPAN
novel mutation
WDR45
Online Access:https://doi.org/10.1002/mgg3.858

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