Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap Velos
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Fibroblast
SUBMITTER: Huibing Wang
LAB HEAD: Junying Yuan
PROVIDER: PXD027493 | Pride | 2021-08-06
REPOSITORIES: Pride
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]