Article
A sensory and motor neuropathy caused by a genetic variant of NAMPT.
Science advances - 26 Sept 2025
Zhang Zhe, Pilch Jacek, Lundt Samuel, Zhang Nannan, Chang Yongchang, Singer Tracey, Śladowski Dariusz, Hu Xiao-Ling, Zheng Lijun, Ge Woo-Ping, Zhang Hua, Li De-Pei, Han Xianlin, Ploski Rafal, Ding Shinghua
Abstract excerpt
Nicotinamide phosphoribosyl transferase (NAMPT) is the rate-limiting enzyme in the salvage pathway for nicotinamide adenine dinucleotide (NAD+) biosynthesis in mammalian cells and is essential for survival. Here, we report on a previously unidentified axonal sensory and motor neuropathy likely caused by a homozygous genetic variant of missense mutation (c.472G>C, p.P158A) in the NAMPT gene. Two affected siblings...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.