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Article

Allele-specific conformational rescue of KIF1A T99M by genetic suppressors in a C. elegans model of KIF1A-associated neurological disorder.

Journal of cell science - 1 Oct 2025

Chen Zihan, Chai Yongping, Guo Zhengyang, Fu Xuanyu, Li Wei, Zhang Jinxiang, Ou Guangshuo, Wang Hui

Abstract excerpt

KIF1A-associated neurological disorder (KAND) arises from mutations in the microtubule motor KIF1A, disrupting synaptic vesicle transport. Here, we investigate the pathogenic T99M substitution in the P-loop of KIF1A, which induces steric hindrance, impairing ATP/ADP coordination and motor activity. Using CRISPR-engineered Caenorhabditis elegans expressing the homologous UNC-104(T95M) mutation, we conducted...

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PMID: 40964787
DOI: 10.1242/jcs.264216

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KIF1A

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