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Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish
Conclusions: These findings pointed out that the compound heterozygous mutations in human LPIN1 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.
Source: Theranostics - January 15, 2021 Category: Molecular Biology Authors: Shuxian Lu, Zhaojie Lyu, Zhihao Wang, Yao Kou, Cong Liu, Shengyue Li, Mengyan Hu, Hongjie Zhu, Wenxing Wang, Ce Zhang, Yung-Shu Kuan, Yi-Wen Liu, Jianming Chen, Jing Tian Tags: Research Paper Source Type: research

AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in  vitro.
AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in vitro. Mol Med Rep. 2020 Jan 31;: Authors: Zong L, Zhao J, Wu W, Wang J, Huang D, Liu M Abstract The underlying mechanism involved in auditory neuropathy spectrum disorder (ANSD) remains largely unclear. It has been previously reported that mutations in the apoptosis‑inducing factor (AIF) gene are associated with auditory neuropathy and delayed peripheral neuropathy, which can eventually cause ANSD. In the present study, the regulatory effects of AIF knockdown on the cellular functions of spiral gangl...
Source: Molecular Medicine Reports - April 24, 2020 Category: Molecular Biology Tags: Mol Med Rep Source Type: research

Cortex Mori Radicis extract promotes neurite outgrowth in diabetic rats by activating PI3K/AKT signaling and inhibiting Ca2+ influx associated with the upregulation of transient receptor potential canonical channel 1.
Authors: Lu M, Yi T, Xiong Y, Wang Q, Yin N Abstract Cortex Mori Radicis extract (CMR) has various pharmacological properties, such as anti‑inflammatory, anti‑allergic and anti‑hyperglycemic effects. However, the effects and mechanisms of CMR in the neuroregeneration of diabetic peripheral neuropathy (DPN) are unclear. In the present study, the effects of CMR on neurite outgrowth of dorsal root ganglia (DRG) neurons in diabetic rats were investigated and its underlying mechanisms were explored. SD rats were subjected to a high‑fat diet with low‑dose streptozotocin to induce a Type II diabetes model with p...
Source: Molecular Medicine Reports - January 16, 2020 Category: Molecular Biology Tags: Mol Med Rep Source Type: research