APP c.1027A>T ;(p.S343C)

Variant ID: 21-27372336-T-A

NM_000484.3(APP):c.1027A>T;(p.S343C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High-Fat Diet Leads to Reduced Protein O-GlcNAcylation and Mitochondrial Defects Promoting the Development of Alzheimer's Disease Signatures.

International Journal Of Molecular Sciences
Zuliani, Ilaria I; Lanzillotta, Chiara C; Tramutola, Antonella A; Barone, Eugenio E; Perluigi, Marzia M; Rinaldo, Serena S; Paone, Alessio A; CutruzzolĂ , Francesca F; Bellanti, Francesco F; Spinelli, Matteo M; Natale, Francesca F; Fusco, Salvatore S; Grassi, Claudio C; Di Domenico, Fabio F
Publication Date: 2021-04-03

Variant appearance in text: APP: S343C
PubMed Link: 33916835
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Dysregulation of OGT/OGA Cycle Mediates Tau and APP Neuropathology in Down Syndrome.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Zuliani, Ilaria I; Lanzillotta, Chiara C; Tramutola, Antonella A; Francioso, Antonio A; Pagnotta, Sara S; Barone, Eugenio E; Perluigi, Marzia M; Di Domenico, Fabio F
Publication Date: 2021-01

Variant appearance in text: APP: S343C
PubMed Link: 33258073
Variant Present in the following documents:
  • Main text
View BVdb publication page