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<i>PRESENILIN 1</i> mutations causing early-onset familial Alzheimer’s disease or familial acne inversa differ in their effects on genes facilitating energy metabolism and signal transduction

2021-01-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The most common cause of early-onset familial Alzheimer’s disease (EOfAD) is mutations in PRESENILIN 1 ( PSEN1 ) allowing production of mRNAs encoding full-length, but mutant, proteins. In contrast, a single known frameshift mutation in PSEN1 causes familial acne inversa (fAI) without EOfAD. The molecular consequences of heterozygosity for these mutation types, and how th...

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Literature Corpus work
72d58a40-8954-5efa-a1e2-f97eaf73b4d5
DOI
10.1101/2021.01.26.428321
Open publication

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<i>PRESENILIN 1</i> mutations causing early-onset familial Alzheimer’s disease or familial acne inversa differ in their effects on genes facilitating energy metabolism and signal transductionDOI 10.1101/2021.01.26.428321
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