WDR45 依赖性细胞周期损伤在β-三叶螺旋蛋白相关神经退行性变（BPAN）患者的成纤维细胞中。
WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN).
机构信息
Medical Genetics and Neurogenetics Unit - Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
Section of Biotechnologies, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
出版信息
Biochim Biophys Acta Mol Cell Res. 2024 Dec;1871(8):119842. doi: 10.1016/j.bbamcr.2024.119842. Epub 2024 Sep 13.
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.
在患有神经退行性脑铁蓄积症 5 型（NBIA5 或 BPAN）的患者中发现了 WDR45 基因的新生突变，其特征是基底节中非转铁蛋白结合铁（NTBI）的积累和 WDR45 依赖性自噬受损。在这里，我们显示了 BPAN 原代成纤维细胞中 TFEB 的下调和细胞周期受损。值得注意的是，TFEB 的过表达挽救了这种损伤，描绘了一种新的 WDR45 依赖性细胞周期表型。
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