GAA c.1645G>C ;(p.G549R)

Variant ID: 17-78085790-G-C

NM_000152.3(GAA):c.1645G>C;(p.G549R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: GAA: G549R
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
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: G549R
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: G549R
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

Molecular Therapy. Methods & Clinical Development
Buratti, Emanuele E; Peruzzo, Paolo P; Braga, Luca L; Zanin, Irene I; Stuani, Cristiana C; Goina, Elisa E; Romano, Maurizio M; Giacca, Mauro M; Dardis, Andrea A
Publication Date: 2021-03-12

Variant appearance in text: GAA: 1645G>C
PubMed Link: 33426149
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • main.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1645G>C; Gly549Arg
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: GAA: G549R
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
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: G549R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Plos One
Khanna, Richie R; Powe, Allan C AC; Lun, Yi Y; Soska, Rebecca R; Feng, Jessie J; Dhulipala, Rohini R; Frascella, Michelle M; Garcia, Anadina A; Pellegrino, Lee J LJ; Xu, Su S; Brignol, Nastry N; Toth, Matthew J MJ; Do, Hung V HV; Lockhart, David J DJ; Wustman, Brandon A BA; Valenzano, Kenneth J KJ
Publication Date: 2014

Variant appearance in text: GAA: G549R
PubMed Link: 25036864
Variant Present in the following documents:
  • Main text
  • pone.0102092.pdf
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: G549R
PubMed Link: 22990675
Variant Present in the following documents:
  • Main text
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: 1645G>C; G549R
PubMed Link: 19046416
Variant Present in the following documents:
  • Main text
  • 1755-8417-1-6.pdf
View BVdb publication page



Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pittis, M G MG; Filocamo, M M
Publication Date: 2007-07

Variant appearance in text: GAA: 1645G>C; G549R
PubMed Link: 17915575
Variant Present in the following documents:
  • Main text
View BVdb publication page