PAPER Zhang C, Xie S, Malek M
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PAPER Lomi M, Geraci F, Del Seppia C, Dolciotti C, Del Carratore R, Bongioanni P
Biomarker Profile in Peripheral Blood Cells Related to Alzheimer's Disease.
Mol Neurobiol. 2025 Mar 10; Epub 2025 Mar 10 PubMed.PAPER Lorenzini L, Barkhof F
The Transdiagnostic Value of Plasma Biomarkers for Neurodegenerative and Cerebrovascular MRI Findings.
Neurology. 2025 Apr 8;104(7):e213531. Epub 2025 Mar 10 PubMed.PAPER Nishikawa M, Takeda A, Miyazawa N, Hara N, Ishii K, Ikeuchi T, Itoh Y
Inherited Prion Disease with a 5-octapeptide Repeat Insertion in the PRNP Gene Presenting with Familial Juvenile Dementia: A Case Report.
Intern Med. 2025 Mar 8; Epub 2025 Mar 8 PubMed.David Hilbert
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
PSEN1 P436A
MUTATIONS PSEN1 73685899 GRCh37/hg19 C G 73219191 GRCh38/hg38 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 73683867 GRCh37/hg19 T A 73217159 GRCh38/hg38 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 73683859 GRCh37/hg19 T G 73217151 GRCh38/hg38 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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