Neurobeachin is essential for neuromuscular synaptic transmission
Neurobeachin is essential for neuromuscular synaptic transmission
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DOI：
10.1523/jneurosci.4644-03.2004
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发表时间：
2004-04-07
影响因子：
5.3
通讯作者：
Cooke, NE
中科院分区：
文献类型：
--
作者：
Su, YH;Balice-Gordon, RJ;Cooke, NE
我们报告了一种小鼠基因组的随机破坏，导致纯合子新生儿的致命性瘫痪。这种干扰阻断了Neurobeachin的表达，Neurobeachin是一种含有与突触小泡运输有关的BASHAGE(米色和Chediak-Higashi)结构域以及与cAMP依赖的蛋白激酶活性定位相关的AKAP(A-Kinase锚定蛋白)结构域的蛋白。NbeA基因缺失的小鼠表现出神经肌肉接头处诱发的突触传递完全阻断，而神经传导、突触结构和自发突触小泡释放完全正常。这些发现支持了神经水位素在神经肌肉交界处诱发的神经递质释放中的重要作用，并表明它在突触传递中发挥着重要作用。
We report a random disruption in the mouse genome that resulted in lethal paralysis in homozygous newborns. The disruption blocked expression of neurobeachin, a protein containing a BEACH (beige and Chediak-Higashi) domain implicated in synaptic vesicle trafficking and an AKAP (A-kinase anchor protein) domain linked to localization of cAMP-dependent protein kinase activity. nbea-null mice demonstrated a complete block of evoked synaptic transmission at neuromuscular junctions, whereas nerve conduction, synaptic structure, and spontaneous synaptic vesicle release were completely normal. These findings support an essential role for neurobeachin in evoked neurotransmitter release at neuromuscular junctions and suggest that it plays an important role in synaptic transmission.