PAPER Wada K

[Diagnostic Communication for Alzheimer's Disease].

Brain Nerve. 2025 Mar;77(3):251-257. PubMed.

PAPER Thayer JA, Petersen JD, Huang X, Hawrot J, Ramos DM, Sekine S, Li Y, Ward ME, Narendra DP

Novel reporter of the PINK1-Parkin mitophagy pathway identifies its damage sensor in the import gate.

bioRxiv. 2025 Feb 20; PubMed.

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.

Neuroscience. 2025 Mar 8; Epub 2025 Mar 8 PubMed.

David Hilbert

University of Illinois Chicago
United 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