GAA c.1364A>G ;(p.Y455C)

Variant ID: 17-78083781-A-G

NM_000152.3(GAA):c.1364A>G;(p.Y455C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GAA: 1364A>G
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine
Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y
Publication Date: 2022-06

Variant appearance in text: GAA: Y455C
PubMed Link: 35665479
Variant Present in the following documents:
  • Main text
  • CTM2-12-e843-s002.xlsx, sheet 6
  • CTM2-12-e843.pdf
View BVdb publication page



Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)
Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C
Publication Date: 2021-11-29

Variant appearance in text: GAA: Y455C
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)
Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C
Publication Date: 2021-11-29

Variant appearance in text: GAA: Y455C
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications
Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP
Publication Date: 2020-02

Variant appearance in text: GAA: 1364A>G
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.xlsx, sheet 1
View BVdb publication page



Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.

Yonsei Medical Journal
Lee, Hyunjoo H; Lim, Joohee J; Shin, Jeong Eun JE; Eun, Ho Sun HS; Park, Min Soo MS; Park, Kook In KI; Namgung, Ran R; Lee, Jin Sung JS
Publication Date: 2019-11

Variant appearance in text: GAA: 1364A>G; Tyr455Cys
PubMed Link: 31637888
Variant Present in the following documents:
  • ymj-60-1061.pdf
View BVdb publication page



Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Publication Date: 2017-10-24

Variant appearance in text: GAA: Y455C
PubMed Link: 29061980
Variant Present in the following documents:
  • 41467_2017_1263_MOESM1_ESM.pdf
View BVdb publication page



Discovery of a novel noniminosugar acid α glucosidase chaperone series.

Journal Of Medicinal Chemistry
Xiao, Jingbo J; Westbroek, Wendy W; Motabar, Omid O; Lea, Wendy A WA; Hu, Xin X; Velayati, Arash A; Zheng, Wei W; Southall, Noel N; Gustafson, Ann Marie AM; Goldin, Ehud E; Sidransky, Ellen E; Liu, Ke K; Simeonov, Anton A; Tamargo, Rafael J RJ; Ribes, Antonia A; Matalonga, Leslie L; Ferrer, Marc M; Marugan, Juan J JJ
Publication Date: 2012-09-13

Variant appearance in text: GAA: Y455C
PubMed Link: 22834902
Variant Present in the following documents:
  • Main text
View BVdb publication page