Ontology highlight
ABSTRACT:
SUBMITTER: Wang H
PROVIDER: S-EPMC8355301 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Wang Huibing H Qi Weiwei W Zou Chengyu C Xie Zhangdan Z Zhang Mengmeng M Naito Masanori Gomi MG Mifflin Lauren L Liu Zhen Z Najafov Ayaz A Pan Heling H Shan Bing B Li Ying Y Zhu Zheng-Jiang ZJ Yuan Junying J
Nature communications 20210810 1
Loss-of-function mutations in NEK1 gene, which encodes a serine/threonine kinase, are involved in human developmental disorders and ALS. Here we show that NEK1 regulates retromer-mediated endosomal trafficking by phosphorylating VPS26B. NEK1 deficiency disrupts endosomal trafficking of plasma membrane proteins and cerebral proteome homeostasis to promote mitochondrial and lysosomal dysfunction and aggregation of α-synuclein. The metabolic and proteomic defects of NEK1 deficiency disrupts the int ...[more]