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 LPIN1 cause recurrent, early-onset myoglobinuria, a condition normally associated with muscle pain and weakness. Whether and how lipin 1 deficiency in...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806489/
https://www.ncbi.nlm.nih.gov/pubmed/33456573
http://dx.doi.org/10.7150/thno.53330

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