Motor neuropathy‐associated mutation impairs Seipin functions in neurotransmission

Gain‐of‐toxic‐function mutations in Seipin (Asparagine 88 to Serine (N88S) and Serine 90 to Leucine (S90L) mutations, both of which disrupt the N‐glycosylation) cause autosomal dominant motor neuron diseases. However, the mechanism of how these missense mutations lead to motor neuropathy is unclear....

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Veröffentlicht in:	Journal of neurochemistry 2014-04, Vol.129 (2), p.328-338
Hauptverfasser:	Wei, Shunhui, Soh, Stephanie Li‐Ying, Xia, Julia, Ong, Wei‐Yi, Pang, Zhiping P., Han, Weiping
Format:	Artikel
Sprache:	eng
Schlagworte:	AMPA receptor Animals Cells, Cultured EPSC Excitatory Postsynaptic Potentials - physiology Female GABA Gene Expression - drug effects Gene Expression - physiology Genetic Vectors glutamate Heterotrimeric GTP-Binding Proteins - genetics Heterotrimeric GTP-Binding Proteins - physiology Image Processing, Computer-Assisted Immunohistochemistry IPSC Lentivirus - genetics Male Mice Mice, Inbred C57BL Microscopy, Electron, Transmission Motor Neuron Disease - genetics Mutation Mutation, Missense - genetics Mutation, Missense - physiology Neurochemistry neurotransmission Neurotransmitters Proteins Spastic Paraplegia, Hereditary - genetics Spastic Paraplegia, Hereditary - physiopathology Synapses - physiology Synaptic Transmission - genetics Synaptic Transmission - physiology
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