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Title: Conditional inactivation of Nf1 and Pten in Schwann cells results in abnormal neuromuscular junction maturation
Authors: Li, XX 
Zhang, SJ 
Chiu, AP 
Lo, LH 
To, JC 
Cui, HN 
Rowlands, DK
Keng, VW 
Issue Date: 1-Jan-2019
Source: G3-genes genomes genetics (Bethesda), 1 Jan. 2019, v. 9, no. 1, p. 297-303
Abstract: The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs). The role of Schwann cells (SCs) in regulating NMJ structural and functional development remains unclear. In this study, mice with conditional inactivation of neurofibromin 1 (Nf1) and phosphatase and tensin homolog (Pten), specifically in SCs, resulted in delayed NMJ maturation that led to delayed muscle growth, recapitulating the muscular dystrophy condition observed in human neurofibromatosis type I syndrome (NF1) patients. Expression levels of NMJ development related molecules such as cholinergic receptor, nicotinic, alpha polypeptide 1 (Chrna1), agrin (Agrn), dystrophin, muscular dystrophy (Dmd), laminin, beta 2 (Lamb2) and dystroglycan 1 (Dag1) were also downregulated. To further explore the molecular alterations in these SCs, NF1- and PTEN-related pathways were analyzed in mutant sciatic nerves. As expected, hyperactive RAS/PI3K/AKT/mTOR signaling pathways were identified, suggesting the importance of these pathways for NMJ development, and subsequent muscle maturation.
Keywords: Neuromuscular junction
Schwann cell
Neurofibromin 1
Phosphatase and tensin homolog
Publisher: Genetics Society of America
Journal: G3-genes genomes genetics (Bethesda) 
EISSN: 2160-1836
DOI: 10.1534/g3.118.200795
Rights: Copyright © 2019 Liet al.
This is an open-access article distributed under the terms of the CreativeCommons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproductionin any medium, provided the original work is properly cited.
The following publication Li, X. X., Zhang, S. J., Chiu, A. P., Lo, L. H., To, J. C., Cui, H. N., . . . Keng, V. W. (2019). Conditional inactivation of Nf1 and Pten in Schwann cells results in abnormal neuromuscular junction maturation. G3-Genes Genomes Genetics (Bethesda), 9(1), 297-303 is available at
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