EGR1 c.1226A>T ;(p.D409V)

Variant ID: 5-137803364-A-T

NM_001964.2(EGR1):c.1226A>T;(p.D409V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Alpha-Synuclein: The Spark That Flames Dopaminergic Neurons, In Vitro and In Vivo Evidence.

International Journal Of Molecular Sciences
Henriques, Alexandre A; Rouvière, Laura L; Giorla, Elodie E; Farrugia, Clémence C; El Waly, Bilal B; Poindron, Philippe P; Callizot, Noëlle N
Publication Date: 2022-08-30

Variant appearance in text: 225: D409V
PubMed Link: 36077253
Variant Present in the following documents:
  • ijms-23-09864.pdf
View BVdb publication page



Animal models of Parkinson's disease: a guide to selecting the optimal model for your research.

Neuronal Signaling
Lama, Joana J; Buhidma, Yazead Y; Fletcher, Edward J R EJR; Duty, Susan S
Publication Date: 2021-12

Variant appearance in text: 225: D409V
PubMed Link: 34956652
Variant Present in the following documents:
  • ns-05-ns20210026C.pdf
View BVdb publication page



Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.

International Journal Of Molecular Sciences
Revel-Vilk, Shoshana S; Fuller, Maria M; Zimran, Ari A
Publication Date: 2020-09-28

Variant appearance in text: 225: D409V
PubMed Link: 32998334
Variant Present in the following documents:
  • ijms-21-07159-s001.pdf
  • ijms-21-07159.pdf
View BVdb publication page



Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing.

Nature Reviews. Drug Discovery
Boland, Barry B; Yu, Wai Haung WH; Corti, Olga O; Mollereau, Bertrand B; Henriques, Alexandre A; Bezard, Erwan E; Pastores, Greg M GM; Rubinsztein, David C DC; Nixon, Ralph A RA; Duchen, Michael R MR; Mallucci, Giovanna R GR; Kroemer, Guido G; Levine, Beth B; Eskelinen, Eeva-Liisa EL; Mochel, Fanny F; Spedding, Michael M; Louis, Caroline C; Martin, Olivier R OR; Millan, Mark J MJ
Publication Date: 2018-09

Variant appearance in text: 225: D409V
PubMed Link: 30116051
Variant Present in the following documents:
  • Main text
View BVdb publication page



The relationship between glucocerebrosidase mutations and Parkinson disease.

Journal Of Neurochemistry
Migdalska-Richards, Anna A; Schapira, Anthony H V AH
Publication Date: 2016-10

Variant appearance in text: 225: D409V
PubMed Link: 26860875
Variant Present in the following documents:
  • Main text
  • JNC-139-77.pdf
View BVdb publication page