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SEARCH RESULTS
347679 RESULTS
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University of Illinois ChicagoUnited States
PSEN1 S170del (delTCT)
MUTATIONS PSEN1 73653588_73653590 GRCh37/hg19 TCT--- 73186880_73186882 GRCh38/hg38 TCT--- Exon 6 Coding Unknown, although a variant resulting in S170 deletion (DNA change unknown) resulted in an increased Aβ42/Aβ40 ratio and a decreased Aβ37/42 ratio in cells. Unkn
Maria Consuelo Segura Delgado
, Peru
Robert Mach
University of Pennsylvania, United States
PAPER Krogsaeter EK, McKetney J, Valiente-Banuet L, Marquez A, Willis A, Cakir Z, Stevenson E, Jang GM, Rao A, Li E, Zhou A, Attili A, Chang TS, Kampmann M, Huang Y, Krogan NJ, Swaney DL
Lysosomal proteomics reveals mechanisms of neuronal apoE4-associated lysosomal dysfunction
bioRxiv2023.10.02.560519 .PSEN2 I120S
MUTATIONS PSEN2 227073241 GRCh37/hg19 T G 226885540 GRCh38/hg38 T G Exon 6 Coding Increased Aβ42 levels moderately without a significant change in the Aβ42/Aβ40 ratio. Unknown. I120S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informat
PSEN1 S438C
MUTATIONS PSEN1 73685906 GRCh37/hg19 C G 73219198 GRCh38/hg38 C G Exon 12 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. S438C Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carriers
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