Rafael J Camacho-Garcia

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The identification of mutations in genes encoding proteins of the synaptic neurexin-neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism. A few mutations have been described so far and for most of them the biological consequences are unknown. To(More)
Neuroligins (NLs) are cell-adhesion proteins that regulate synapse formation and function. Neuroligin 1 (NL1) promotes the formation of glutamatergic synapses and mediates long-term potentiation in mouse models. Thus, altered NL1 function could mediate the synaptic and memory deficits associated with Alzheimer's disease (AD). Here, we describe a frameshift(More)
Golgi-prepared cerebella from 1, 10, 13 and 30-day-old kittens were analyzed and compared with 30-45 days in vitro (DIV) HRP-stained organotypic cultures of newborn kitten cerebella. Computer reconstructions and morphometric parameters allowed a quantitative analysis of the Purkinje cell (P-cell) dendritic trees. In intact animals the dendritic organization(More)
Neurexins are synaptic plasma membrane proteins encoded by three genes (NRXN1, -2, -3) with alternative promoters. Mutations in neurexin genes have been identified in different neurodevelopmental disorders, including autism. Recently, two point mutations altering the translation initiation site of NRXN1β (c.-3G>T and c.3G>T) have been described in patients(More)
The in vitro development of kitten Purkinje cells was inhibited by sera or IgG from cerebral malaria (CM) patients but not by sera from acute non-complicated malaria (NCM) cases. This inhibitory effect, quantified by computer-assisted methods, concerned the dendritic (though not the axonal) development and was found to be related to the presence of CM sera(More)
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