Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Dec;1871(8):119842.
doi: 10.1016/j.bbamcr.2024.119842. Epub 2024 Sep 13.

WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)

Barbara Garavaglia  1 , Alessia Nasca  1 , Stefania Mitola  2 , Rosaria Ingrassia  3
Affiliations

WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)

Barbara Garavaglia et al. Biochim Biophys Acta Mol Cell Res. 2024 Dec.

Abstract

De novo mutations in the WDR45 gene have been found in patients affected by Neurodegeneration with Brain Iron Accumulation type 5 (NBIA5 or BPAN), with Non-Transferrin Bound Iron (NTBI) accumulation in the basal ganglia and WDR45-dependent impairment of autophagy. Here we show the downregulation of TFEB and cell cycle impairment in BPAN primary fibroblasts. Noteworthy, TFEB overexpression rescued this impairment, depicting a novel WDR45-dependent cell cycle phenotype.

Keywords: Autophagy; Beta-propeller proteinassociated neurodegeneration (BPAN); Cell cycle; Neurodegeneration with brain iron accumulation (NBIA); TFEB; WDR45.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

References

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources