β螺旋桨蛋白相关神经变性（BPAN）患者成纤维细胞的细胞周期受 WDR45 依赖性影响

IF 4.6 2区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochimica et biophysica acta. Molecular cell research Pub Date : 2024-09-13 DOI:10.1016/j.bbamcr.2024.119842

Barbara Garavaglia , Alessia Nasca , Stefania Mitola , Rosaria Ingrassia

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引用次数: 0

摘要

在脑铁蓄积性神经变性 5 型（NBIA5 或 BPAN）患者中发现了 WDR45 基因的新突变，这些患者的基底神经节中存在非转铁蛋白结合铁（NTBI）蓄积以及 WDR45 依赖性自噬损伤。在这里，我们展示了 BPAN 原始成纤维细胞中 TFEB 的下调和细胞周期损伤。值得注意的是，TFEB的过表达能挽救这种损伤，描述了一种新的依赖于WDR45的细胞周期表型。

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

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.

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来源期刊

Biochimica et biophysica acta. Molecular cell research 生物-生化与分子生物学

CiteScore

10.00

自引率

2.00%

发文量

151

审稿时长

44 days

期刊介绍： BBA Molecular Cell Research focuses on understanding the mechanisms of cellular processes at the molecular level. These include aspects of cellular signaling, signal transduction, cell cycle, apoptosis, intracellular trafficking, secretory and endocytic pathways, biogenesis of cell organelles, cytoskeletal structures, cellular interactions, cell/tissue differentiation and cellular enzymology. Also included are studies at the interface between Cell Biology and Biophysics which apply for example novel imaging methods for characterizing cellular processes.