GAA c.1364A>T ;(p.Y455F)

Variant ID: 17-78083781-A-T

NM_000152.3(GAA):c.1364A>T;(p.Y455F)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: Y455F
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: Y455F
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatrics & Child Health
Zapata-Aldana, Eugenio E; McMillan, Hugh J HJ; Rupar, Tony T; Brunel-Guitton, Catherine C; Chakraborty, Pranesh P; Mitchell, John J JJ; Roth, Johannes J; Tarnopolsky, Mark A MA; Turner, Lesley L; Campbell, Craig C
Publication Date: 2019-07

Variant appearance in text: GAA: 1364A>T; Tyr455Phe
PubMed Link: 31239817
Variant Present in the following documents:
  • Main text
View BVdb publication page



In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

Journal Of Visualized Experiments : Jove
Lukas, Jan J; Knospe, Anne-Marie AM; Seemann, Susanne S; Citro, Valentina V; Cubellis, Maria V MV; Rolfs, Arndt A
Publication Date: 2017-12-20

Variant appearance in text: GAA: Y455F
PubMed Link: 29286471
Variant Present in the following documents:
  • Main text
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: Y455F
PubMed Link: 29061980
Variant Present in the following documents:
  • Main text
  • 41467_2017_1263_MOESM1_ESM.pdf
  • 41467_2017_Article_1263.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GAA: Y455F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Enzyme enhancers for the treatment of Fabry and Pompe disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Lukas, Jan J; Pockrandt, Anne-Marie AM; Seemann, Susanne S; Sharif, Muhammad M; Runge, Franziska F; Pohlers, Susann S; Zheng, Chaonan C; Gläser, Anne A; Beller, Matthias M; Rolfs, Arndt A; Giese, Anne-Katrin AK
Publication Date: 2015-03

Variant appearance in text: GAA: Y455F
PubMed Link: 25409744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Porto, Caterina C; Ferrara, Maria C MC; Meli, Massimiliano M; Acampora, Emma E; Avolio, Valeria V; Rosa, Margherita M; Cobucci-Ponzano, Beatrice B; Colombo, Giorgio G; Moracci, Marco M; Andria, Generoso G; Parenti, Giancarlo G
Publication Date: 2012-12

Variant appearance in text: GAA: Y455F
PubMed Link: 22990675
Variant Present in the following documents:
  • Main text
View BVdb publication page