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 reported a novel de novo mutation (c.1040_1041del, p.Glu347GlyfsTer7) in WDR45 (NM_007075) in a 3-year-old Chinese girl with BPAN.

Methods

The protein structure was constructed using SWISS-MODEL and the isoelectric point (pI) was predicted by the online pI/Mw tool at ExPASy. The functional effects of this mutation were predicted by two online software programs: PROVEN and MutationTaster. Stable overexpression of Flag-tagged wild-type or mutant WDR45 in HeLa cells was constructed. Protein levels

SUBMITTER: Xiong Q 

PROVIDER: S-EPMC6732291 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature