GAA c.1101G>A ;(p.W367*)

Variant ID: 17-78082313-G-A

NM_000152.3(GAA):c.1101G>A;(p.W367*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.

Embo Molecular Medicine
Tarallo, Antonietta A; Damiano, Carla C; Strollo, Sandra S; Minopoli, Nadia N; Indrieri, Alessia A; Polishchuk, Elena E; Zappa, Francesca F; Nusco, Edoardo E; Fecarotta, Simona S; Porto, Caterina C; Coletta, Marcella M; Iacono, Roberta R; Moracci, Marco M; Polishchuk, Roman R; Medina, Diego Luis DL; Imbimbo, Paola P; Monti, Daria Maria DM; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G
Publication Date: 2021-11-08

Variant appearance in text: GAA: 1101G>A; W367X
PubMed Link: 34606154
Variant Present in the following documents:
  • Main text
  • EMMM-13-e14434.pdf
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 1101G>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances
Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL
Publication Date: 2020

Variant appearance in text: GAA: W367X
PubMed Link: 32743548
Variant Present in the following documents:
  • vdaa078_suppl_supplementary_table_9.xlsx, sheet 1
View BVdb publication page



Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Pathogenetics
Cardone, Monica M; Porto, Caterina C; Tarallo, Antonietta A; Vicinanza, Mariella M; Rossi, Barbara B; Polishchuk, Elena E; Donaudy, Francesca F; Andria, Generoso G; De Matteis, Maria Antonietta MA; Parenti, Giancarlo G
Publication Date: 2008-12-01

Variant appearance in text: GAA: 1101G>A; W367X
PubMed Link: 19046416
Variant Present in the following documents:
  • Main text
  • 1755-8417-1-6.pdf
View BVdb publication page