Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish

Lipin 1 is an intracellular protein acting as a phosphatidic acid phosphohydrolase enzyme controlling lipid metabolism. Human recessive mutations in cause recurrent, early-onset myoglobinuria, a condition normally associated with muscle pain and weakness. Whether and how lipin 1 deficiency in humans...

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Veröffentlicht in:	Theranostics 2021, Vol.11 (6), p.2788-2805
Hauptverfasser:	Lu, Shuxian, Lyu, Zhaojie, Wang, Zhihao, Kou, Yao, Liu, Cong, Li, Shengyue, Hu, Mengyan, Zhu, Hongjie, Wang, Wenxing, Zhang, Ce, Kuan, Yung-Shu, Liu, Yi-Wen, Chen, Jianming, Tian, Jing
Format:	Artikel
Sprache:	eng
Schlagworte:	Acids Cloning Embryos Enzymes Kinases Metabolism Musculoskeletal system Mutation Peripheral neuropathy Phosphatase Plasmids Research Paper Rhabdomyolysis
Online-Zugang:	Volltext
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