Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish
Shuxian Lu, Zhaojie Lyu, Zhihao Wang, Yao Kou, Cong Liu, Sheng-Yue Li, Mengyan Hu, Hongjie Zhu, Wenxing Wang, Ce Zhang, Yung‐Shu Kuan, Yiwen Liu, Jianming Chen, Jing Tian
Abstract
caused adult-onset syndromic myasthenia with peripheral neuropathy. Moreover, zebrafish could be used to model the neuromuscular phenotypes due to the lipin 1 deficiency, where a novel pathological role of over-activated Notch signaling was discovered and further confirmed in mammalian cell lines.
Topics & Concepts
ZebrafishSpinal muscular atrophyMyoglobinuriaBiologyHypotoniaCompound heterozygosityMutationGeneticsInternal medicineMedicineGeneRhabdomyolysisNeurogenetic and Muscular Disorders ResearchCellular transport and secretionNuclear Structure and Function