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J Alzheimers Dis ; 94(4): 1343-1349, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37424467

RESUMO

SORL1 loss of function is associated with Alzheimer's disease (AD) risk through increased Aß peptide secretion. We expressed 10 maturation-defective rare missense SORL1 variants in HEK cells and showed that decreasing growing temperature led to a significant increase in the maturation of the encoded protein SorLA for 6/10. In edited hiPSC carrying two of these variants, maturation of the protein was restored partially by decreasing the culture temperature and was associated with concomitant decrease in Aß secretion. Correcting SorLA maturation in the context of maturation-defective missense variants could thus be a relevant strategy to improve SorLA protective function against AD.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Proteínas Relacionadas a Receptor de LDL/genética , Proteínas Relacionadas a Receptor de LDL/metabolismo , Mutação de Sentido Incorreto , Predisposição Genética para Doença , Proteínas de Membrana Transportadoras
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