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We then carried out electrophysiological recordings of cases and controls to address whether TBPH-mediated behavioral phenotypes might be caused by defects in synaptic efficacy and function.
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Transgenic mice carrying a mutated human UNC119 transgene develop fundus lesions, display abnormalities in ribbon synapses and abnormal ERG responses, suggesting that retinal degeneration might be caused by defects in trans-synaptic transmission (Kobayashi et al., 2000).
Third, our method permits the temporal regulation of synaptic marker expression, which can bypass potential developmental defects in synaptic development caused by overexpression of synaptic markers.
Defects in synaptic architecture that are caused by loss of or elevation of dFMR1 levels have functional consequences at the glutamatergic NMJ synapse [27].
Finally AP180 mutants in C. elegans exhibit defects in synaptic vesicle endocytosis as analyzed by electron microscopy (Nonet et al., 1999).
These data indicate that the defects in synaptic transmission and cognition are not caused by a change in expression of key synaptic proteins.
The synaptic defects in ttx-7 mutants might be caused by defects in a selective transport system of synaptic proteins.
Defects in synaptic growth as described in TBPH mutants were very often associated with alterations in synaptic bouton shape.
All ju89 adult worms showed uncoordinated (unc) movement, consistent with defects in synaptic transmission in the motor circuit (Figure 1L).
However the mechanisms behind these phenotypes, whether they were due to defects in synaptic growth or stabilization, are not known.
syd-9 mutants have defects in synaptic transmission and specifically in endocytosis of synaptic vesicles (Wang et al. 2006).
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