APP c.915C>T ;(p.S305=)

Variant ID: 21-27372448-G-A

NM_000484.3(APP):c.915C>T;(p.S305=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD.

Acta Neuropathologica
Bowles, Kathryn R KR; Pugh, Derian A DA; Oja, Laura-Maria LM; Jadow, Benjamin M BM; Farrell, Kurt K; Whitney, Kristen K; Sharma, Abhijeet A; Cherry, Jonathan D JD; Raj, Towfique T; Pereira, Ana C AC; Crary, John F JF; Goate, Alison M AM
Publication Date: 2021-12-07

Variant appearance in text: AD1: S305S
PubMed Link: 34874463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Astroglia and Tau: New Perspectives.

Frontiers In Aging Neuroscience
Kovacs, Gabor G GG
Publication Date: 2020

Variant appearance in text: APP: S305S
PubMed Link: 32327993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alzheimer's disease: phenotypic approaches using disease models and the targeting of tau protein.

Expert Opinion On Therapeutic Targets
Lauretti, Elisabetta E; Praticò, Domenico D
Publication Date: 2020-04

Variant appearance in text: APP: S305S
PubMed Link: 32116063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Untangling Tau and Iron: Exploring the Interaction Between Iron and Tau in Neurodegeneration.

Frontiers In Molecular Neuroscience
Rao, Shalini S SS; Adlard, Paul Anthony PA
Publication Date: 2018

Variant appearance in text: APP: S305S
PubMed Link: 30174587
Variant Present in the following documents:
  • Main text
  • fnmol-11-00276.pdf
View BVdb publication page



Propagation of Tau aggregates.

Molecular Brain
Goedert, Michel M; Spillantini, Maria Grazia MG
Publication Date: 2017-05-30

Variant appearance in text: APP: S305S
PubMed Link: 28558799
Variant Present in the following documents:
  • Main text
  • 13041_2017_Article_298.pdf
View BVdb publication page



Targeting mRNA for Alzheimer's and related dementias.

Scientifica
Wolfe, Michael S MS
Publication Date: 2014

Variant appearance in text: APP: S305S
PubMed Link: 24876993
Variant Present in the following documents:
  • SCIENTIFICA2014-757549.pdf
View BVdb publication page



The role of tau in neurodegenerative diseases and its potential as a therapeutic target.

Scientifica
Wolfe, Michael S MS
Publication Date: 2012

Variant appearance in text: APP: S305S
PubMed Link: 24278740
Variant Present in the following documents:
  • SCIENTIFICA2012-796024.pdf
View BVdb publication page



The role of tau in neurodegeneration.

Molecular Neurodegeneration
Gendron, Tania F TF; Petrucelli, Leonard L
Publication Date: 2009-03-11

Variant appearance in text: APP: S305S
PubMed Link: 19284597
Variant Present in the following documents:
  • 1750-1326-4-13.pdf
View BVdb publication page