Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.

Inappropriate aggression in humans hurts the society, families and individuals. The genetic basis for aggressive behavior, however, remains largely elusive. In this study, we identified two rare missense variants in X-linked GRIA3 from male patients who showed syndromes featuring aggressive outbursts.

Enhancing GluN2A-type NMDA receptors impairs long-term synaptic plasticity and learning and memory.

N-methyl-D-aspartic acid type glutamate receptors (NMDARs) play critical roles in synaptic transmission and plasticity, the dysregulation of which leads to cognitive defects. Here, we identified a rare variant in the NMDAR subunit GluN2A (K879R) in a patient with intellectual disability. The K879R mutation enhanced receptor expression on the cell surface by disrupting a KKK motif that we demonstrated to be an endoplasmic reticulum retention signal.

Distant coupling between RNA editing and alternative splicing of the osmosensitive cation channel Tmem63b.

Post-transcriptional modifications of pre-mRNAs expand the diversity of proteomes in higher eukaryotes. In the brain, these modifications diversify the functional output of many critical neuronal signal molecules. In this study, we identified a brain-specific A-to-I RNA editing that changed glutamine to arginine (Q/R) at exon 20 and an alternative splicing of exon 4 in , which encodes a ubiquitously expressed osmosensitive cation channel.

Cannabidiol inhibits febrile seizure by modulating AMPA receptor kinetics through its interaction with the N-terminal domain of GluA1/GluA2.

Cannabidiol (CBD) is a major phytocannabinoid in Cannabis sativa. CBD is being increasingly reported as a clinical treatment for neurological diseases. Febrile seizure is one of the most common diseases in children with limited therapeutic options.

Neto proteins regulate gating of the kainate-type glutamate receptor GluK2 through two binding sites.

The neuropilin and tolloid-like (Neto) proteins Neto1 and Neto2 are auxiliary subunits of kainate-type glutamate receptors (KARs) that regulate KAR trafficking and gating. However, how Netos bind and regulate the biophysical functions of KARs remains unclear. Here, we found that the N-terminal domain (NTD) of glutamate receptor ionotropic kainate 2 (GluK2) binds the first complement C1r/C1s-Uegf-BMP (CUB) domain of Neto proteins ( NTD-CUB1 interaction) and that the core of GluK2 (GluK2ΔNTD) binds Netos through domains other than CUB1s (core-Neto interaction).

Interferon-gamma expression in natural killer cells and natural killer T cells is suppressed in early pregnancy.

Recent study has suggested that innate immune system might play an important role in pregnancy progression. In this study, to investigate whether NK cells and NKT cells, instead of T cells, are the dominant populations of peripheral blood in early pregnancy, flow cytometry was used to detect the percentage and intracellular cytokine expressions of T cells, NK cells, NKT cells in peripheral blood of non-pregnant women and early pregnant women. In our result, the percentages of NK cells and NKT cells were significantly increased in pregnancy compared to non-pregnancy.

Down-regulation of EDAG expression by retrovirus-mediated small interfering RNA inhibits the growth and IL-8 production of leukemia cells.

Embryonic development associated gene (EDAG), which is overexpressed in hematopoietic neoplasms and leukemia cell lines, has been reported to participate in the leukemia cell differentiation and proliferation. This study investigated whether retrovirus-mediated transfer of a siRNA against EDAG can reduce the growth of leukemia cells which highly express EDAG in vitro and in vivo. The stable transfected cells were identified with RT-PCR, the effect of EDAG/siRNA on the growth of the human erythroleukemia cell line HEL was analyzed by MTT assay, and angiogenic factor IL-8 release was evaluated by ELISA and RT-PCR.

[Effects of small interfering RNA specific for Her-2 gene on biological behavior of ovarian carcinoma cell].

Objective: To explore the effects of small interfering RNA (siRNA) specific for Her-2 gene on biological behavior of ovarian carcinoma cell.

Methods: Her-2 siRNA recombinant plasmid and negative control plasmid were transfected into packing cell line PT67 by liposome, and PT67 was selected by puromycin later. SKOV3 was infected by the virus supernatant of stably transfected PT67 cell lines, and the stably transfected SKOV3 cell lines (SKOV3/siRNA, SKOV3/siRNA-negative) established by selection with puromycin were investigated in terms of the reduction levels of Her-2 mRNA and p185 by RT-PCR and immunohistochemistry.