학술논문
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased ABeta42 secretion.
Document Type
Article
Author
Jonghe, Chris De; Cruts, Marc; Rogaeva, Ekaterina A.; Tysoe, Carolyn; Singleton, Andrew; Vanderstichele, Hugo; Meschino, Wendy; Dermaut, Bart; Vanderhoeven, Inge; Backhovens, Hubert; Vanmechelen, Eugeen; Morris, Christopher M.; Hardy, John; Rubinsztein, David C.; St. George-Hyslop, Peter H.; Van Broeckhoven, Christine
Source
Human Molecular Genetics; Aug99, Vol. 8 Issue 8, p1529, 12p, 16 Diagrams, 2 Charts
Subject
Language
ISSN
09646906
Abstract
Examines the association between abberant RNA splicing in presenilin-1 intron 4 mutation and Alzheimer's disease. Age of onset; Secretion of Abeta42 gene in plasma and fibroblasts of mutation carriers; Factors involved in the inhibition of non-lysosomal degradation pathways of the cell.