RT Journal Article
SR Electronic
T1 Neurobeachin Is Essential for Neuromuscular Synaptic Transmission
JF The Journal of Neuroscience
JO J. Neurosci.
FD Society for Neuroscience
SP 3627
OP 3636
DO 10.1523/JNEUROSCI.4644-03.2004
VO 24
IS 14
A1 Yuhua Su
A1 Rita J. Balice-Gordon
A1 Darren M. Hess
A1 Douglas S. Landsman
A1 Jeremy Minarcik
A1 Jeffrey Golden
A1 Ivy Hurwitz
A1 Stephen A. Liebhaber
A1 Nancy E. Cooke
YR 2004
UL http://www.jneurosci.org/content/24/14/3627.abstract
AB 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.