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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease
Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta catenin. PSEN1 has been extensively studied in neurodegeneration, and more than 300 PSEN1 mutations have been discovered to...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179041/ https://www.ncbi.nlm.nih.gov/pubmed/37176125 http://dx.doi.org/10.3390/ijms24098417 |