Neurobeachin is essential for neuromuscular synaptic transmission

被引：65

作者：

Su, YH

Balice-Gordon, RJ

Hess, DM

Landsman, DS

Minarcik, J

Golden, J

Hurwitz, I

Liebhaber, SA

Cooke, NE

机构：

[1] Univ Penn, Sch Med, Dept Genet & Med, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Dept Neurosci, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Dept Pathol, Philadelphia, PA 19104 USA

[4] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Philadelphia, PA 19104 USA

来源：

JOURNAL OF NEUROSCIENCE | 2004年 / 24卷 / 14期

关键词：

action potential; axon; neuromuscular; vesicle; synapse; neurobeachin;

D O I：

10.1523/JNEUROSCI.4644-03.2004

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：3627 / 3636

页数：10

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[1] FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase [J].