La enfermedad de Alzheimer (AD) es una enfermedad neurodegenerativa asociada con el envejecimiento que se caracteriza por el deterioro progresivo de la memoria en los pacientes. El factor causal mayoritario responsable de casos de AD familiar (FAD) son mutaciones de pérdida parcial de función en los genes de Presenilina 1 (PS1) y Presenilina 2...
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October 2, 2018 (v1)PublicationUploaded on: December 4, 2022
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December 1, 2021 (v1)Publication
Presenilins (PS) form the active subunit of the gamma-secretase complex, which mediates the proteolytic clearance of a broad variety of type-I plasma membrane proteins. Loss-of-function mutations in PSEN1/2 genes are the leading cause of familial Alzheimer's disease (fAD). However, the PS/gamma-secretase substrates relevant for the neuronal...
Uploaded on: December 4, 2022 -
July 30, 2024 (v1)Publication
Proteolytic processing of synaptic adhesion components can accommodate the function of synapses to activity-dependent changes. The adhesion system formed by neurexins (Nrxns) and neuroligins (Nlgns) bidirectionally orchestrate the function of presynaptic and postsynaptic terminals. Previous studies have shown that presenilins (PS), components...
Uploaded on: July 31, 2024 -
July 30, 2024 (v1)Publication
Alzheimer's disease (AD) is characterized by memory impairments and age-dependent synapse loss. Experimental and clinical studies have shown decreased expression of the glutamatergic protein Neuroligin-1 (Nlgn1) in AD. However, the consequences of a sustained reduction of Nlgn1 are unknown. Here, we generated a knockin mouse that reproduces the...
Uploaded on: July 31, 2024