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Published in 2022 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.15750
Abstract: The mechanisms of amyloid accumulation in familial Alzheimer's disease (FAD) and sporadic AD (SAD) are controversial. In FAD, mutations in presenilin (PSEN) impair γ‐secretase activity and lead to abnormal amyloid β–protein (Aβ) production, thereby increasing…
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Keywords:
apoe4;
secretase complex;
production;
activity ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.962449
Abstract: Hidradenitis suppurativa (HS) is a disease of the pilosebaceous unit characterized by recurrent nodules, abscesses and draining tunnels with a predilection to intertriginous skin. The pathophysiology of HS is complex. However, it is known that…
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Keywords:
hidradenitis suppurativa;
secretase complex;
missense;
variation ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24098141
Abstract: Amplification of the MYCN oncogene is found in ~20% of neuroblastoma (NB) cases and correlates with high-risk disease and poor prognosis. Despite the plethora of studies describing the role of MYCN in NB, the exact…
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Keywords:
mycn amplified;
secretase complex;
expression;
mycn ... See more keywords