MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1038/s41467-025-60583-x

Медицинская библиотека · Nature communications · 2025

β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1.

Li Yin, Fang Jie, Ding Yuqi, Zhang Xilong, Liu Ying, Qiu Wanting, Xu He, Kang Yunzhe, Chen Jiayu, Gao Yanyan, Zhao Yan G, Yang Peiguo, Wang Bo, Tian Wenmin, Chen Yang, Bi Wenjian, Zhang Peipei

СтатьяПеревод пока не подготовлен

Аннотация

β-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked neurodegenerative disorder caused by mutations in the WDR45 gene, yet its molecular mechanisms remain poorly understood. Here, we identify a role for WDR45 in stress granule (SG) disassembly, mediated through its phase separation with Caprin-1. We demonstrate that WDR45 forms gel-like condensates via its WD5 domain, which competitively displaces G3BP1 from Caprin-1 to promote SG disassembly. BPAN-associated WDR45 mutations impair condensate formation and Caprin-1 interaction, leading to delayed SG disassembly, which correlates with earlier disease onset. WDR45 depletion also exacerbates amyotrophic lateral sclerosis-associated pathological SGs, highlighting its broader relevance to neurodegenerative diseases. Using iPSC-derived midbrain neurons from a BPAN patient, we demonstrate delayed SG recovery, directly linking WDR45 dysfunction to neurodegeneration. These findings establish WDR45 as a critical regulator of SG dynamics, uncover a potential molecular basis of BPAN pathogenesis, and identify therapeutic targets for neurodegenerative diseases associated with SG dysregulation.

Для цитирования: Li Yin, Fang Jie, Ding Yuqi, Zhang Xilong, Liu Ying, Qiu Wanting, Xu He, Kang Yunzhe, Chen Jiayu, Gao Yanyan, Zhao Yan G, Yang Peiguo, Wang Bo, Tian Wenmin, Chen Yang, Bi Wenjian, Zhang Peipei. β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1.. Nature communications. 2025. DOI: 10.1038/s41467-025-60583-x.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.