GLA c.509A>C ;(p.D170A)

Variant ID: X-100656658-T-G

NM_000169.2(GLA):c.509A>C;(p.D170A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules
Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S
Publication Date: 2021-12-10

Variant appearance in text: GLA: Asp170Ala
PubMed Link: 34944500
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01856.pdf
View BVdb publication page



The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules
Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S
Publication Date: 2021-12-10

Variant appearance in text: GLA: Asp170Ala
PubMed Link: 34944500
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01856.pdf
View BVdb publication page



The molecular basis of pharmacological chaperoning in human α-galactosidase.

Chemistry & Biology
Guce, Abigail I AI; Clark, Nathaniel E NE; Rogich, Jerome J JJ; Garman, Scott C SC
Publication Date: 2011-12-23

Variant appearance in text: GLA: D170A
PubMed Link: 22195554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.

The Journal Of Biological Chemistry
Tomasic, Ivan B IB; Metcalf, Matthew C MC; Guce, Abigail I AI; Clark, Nathaniel E NE; Garman, Scott C SC
Publication Date: 2010-07-09

Variant appearance in text: GLA: D170A
PubMed Link: 20444686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Catalytic mechanism of human alpha-galactosidase.

The Journal Of Biological Chemistry
Guce, Abigail I AI; Clark, Nathaniel E NE; Salgado, Eric N EN; Ivanen, Dina R DR; Kulminskaya, Anna A AA; Brumer, Harry H; Garman, Scott C SC
Publication Date: 2010-02-05

Variant appearance in text: GLA: D170A
PubMed Link: 19940122
Variant Present in the following documents:
  • Main text
View BVdb publication page