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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...

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Detalles Bibliográficos
Autores principales:	Yang, Youngsoon, Bagyinszky, Eva, An, Seong Soo A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
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

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