PAPER Pu Z, Huang H, Li M, Li H, Shen X, Du L, Wu Q, Fang X, Meng X, Ni Q, Li G, Cui D
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349591 RESULTS
PAPER Sharma V, Unjum Saqib BZ, Aran KR
Leptin as a potential neuroprotective target in Parkinson's Disease: Exploring its role in Neuroinflammation, oxidative Stress, and dopaminergic neurodegeneration.
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Neuropathological links between T2DM and LOAD: systematic review and meta-analysis.
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Developing Treatment Models for the Delivery of the Antiamyloid Therapy, Lecanemab: Considerations for Implementation of Lecanemab in Healthcare Systems.
Am J Geriatr Psychiatry. 2025 Jun;33(6):601-610. Epub 2025 Feb 26 PubMed.David Hilbert
University of Illinois ChicagoUnited States
PSEN1 S170del (delTCT)
MUTATIONS PSEN1 73186880_73186882 GRCh38/hg38 TCT--- 73653588_73653590 GRCh37/hg19 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 226885540 GRCh38/hg38 T G 227073241 GRCh37/hg19 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 73219198 GRCh38/hg38 C G 73685906 GRCh37/hg19 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
PSEN1 P436A
MUTATIONS PSEN1 73219191 GRCh38/hg38 C G 73685899 GRCh37/hg19 C G Exon 12 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. P436A Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carriers
PSEN1 F388Y
MUTATIONS PSEN1 73217159 GRCh38/hg38 T A 73683867 GRCh37/hg19 T A Exon 11 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. F388Y Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informati
PSEN1 D385E
MUTATIONS PSEN1 73217151 GRCh38/hg38 T G 73683859 GRCh37/hg19 T G Exon 11 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. D385E Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informati
Anne Pedata
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