Articles with "psen1 mutations" as a keyword



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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231810970

Abstract: Presenilin-1 (PSEN1) has been verified as an important causative factor for early onset Alzheimer’s disease (EOAD). PSEN1 is a part of γ-secretase, and in addition to amyloid precursor protein (APP) cleavage, it can also affect… read more here.

Keywords: presenilin psen1; psen1; clinical phenotypes; psen1 mutations ... See more keywords
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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24098417

Abstract: 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… read more here.

Keywords: presenilin psen1; psen1; disease; alzheimer disease ... See more keywords