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

Paulo Santos

Brazil

PSEN1 E273K

MUTATIONS PSEN1 73664786 GRCh37/hg19 G A 73198078 GRCh38/hg38 G A EXON 8 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 33). Unknown. E273K Alzheimer's Disease: Not ClassifiedAlzheimer's Disease GAA E AAA K 273

PSEN1 V261A

MUTATIONS PSEN1 73664751 GRCh37/hg19 rs199723282 T C 73198043 GRCh38/hg38 T C Exon 8 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 25.9). Unknown. V261A Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed infor

PSEN1 P242H

MUTATIONS PSEN1 73659528 GRCh37/hg19 C A 73192820 GRCh38/hg38 C A Exon 7 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. P242H Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informatio

Michal Schwartz on With Age, Macrophages Chew up the Blood-CSF Barrier

COMMENT This paper by Chen and colleagues provides new insight into the delicate balance between immune cells and the brain, particularly at the barriers that serve as physiological interfaces between these two systems. Specifically, the authors focus on how the

Charles Stromeyer on Can Autoimmunity Spark Alzheimer’s Disease?

COMMENT Autoimmune disorders are more prevalent in females versus males, and a molecular clue is that Xist long noncoding RNA (lncRNA) ribonucleoproteins are a promoter of sex-biased autoimmunity (Dou et al., 2024), and Xist appears in the cytoplasm of AD (Sen an

PAPER Sen S, Mukhopadhyay D

Aberrant XIST beyond the inactivated X chromosome modulates the intracellular dysregulation in Alzheimer’s disease

Alzheimer's Association, 3 January 2025 . Alzheimer's Association