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Genetic mutations that cause decreased expression of functional αA-crystallins and αB-crystallins typically result in recessively inherited cataracts, such that their residual activity is sufficient to maintain lens transparency during childhood, even though this can result in increased susceptibility to...
Other mutations in HL-I loop, such as Tyr115His and Glu120Asp, were described in patients with YOND, supporting the critical role of HL-I loop in PSEN1 activity. Keywords: young onset Alzheimer's dementia; familial; presenilin-1; mutation; PSEN1 Thr116Ile mutation 1. Introduction Minority ...
This study was conducted to detect causative genes in complex families with CC and to predict the structural and conformational impacts of the mutation on protein activity. Life 2023, 13, 1788 3 of 13 2. Materials and Methods The institutional review board of the University of Health Sciences,...