GLA c.155G>C ;(p.C52S)

Variant ID: X-100662737-C-G

NM_000169.2(GLA):c.155G>C;(p.C52S)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


X-chromosomal inactivation patterns in women with Fabry disease.

Molecular Genetics & Genomic Medicine
Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N
Publication Date: 2022-09

Variant appearance in text: GLA: C52S
PubMed Link: 35971858
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2029.pdf
View BVdb publication page



Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal
Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R
Publication Date: 2019

Variant appearance in text: GLA: C52S
PubMed Link: 32042454
Variant Present in the following documents:
  • Main text
  • CHSJ-45-3-272.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: C52S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Fabry disease in the Spanish population: observational study with detection of 77 patients.

Orphanet Journal Of Rare Diseases
Vieitez, Irene I; Souto-Rodriguez, Olga O; Fernandez-Mosquera, Lorena L; San Millan, Beatriz B; Teijeira, Susana S; Fernandez-Martin, Julian J; Martinez-Sanchez, Felisa F; Aldamiz-Echevarria, Luis Jose LJ; Lopez-Rodriguez, Monica M; Navarro, Carmen C; Ortolano, Saida S
Publication Date: 2018-04-10

Variant appearance in text: GLA: Cys52Ser
PubMed Link: 29631605
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_792.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: GLA: C52S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Xu, Su S; Lun, Yi Y; Brignol, Nastry N; Hamler, Rick R; Schilling, Adriane A; Frascella, Michelle M; Sullivan, Sean S; Boyd, Robert E RE; Chang, Kate K; Soska, Rebecca R; Garcia, Anadina A; Feng, Jessie J; Yasukawa, Hidehito H; Shardlow, Carole C; Churchill, Alison A; Ketkar, Amol A; Robertson, Nicola N; Miyamoto, Masahito M; Mihara, Kazutoshi K; Benjamin, Elfrida R ER; Lockhart, David J DJ; Hirato, Tohru T; Fowles, Susie S; Valenzano, Kenneth J KJ; Khanna, Richie R
Publication Date: 2015-07

Variant appearance in text: GLA: 155G>C; C52S
PubMed Link: 25915924
Variant Present in the following documents:
  • Main text
  • mt201587a.pdf
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: C52S
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Benjamin, Elfrida R ER; Khanna, Richie R; Schilling, Adriane A; Flanagan, John J JJ; Pellegrino, Lee J LJ; Brignol, Nastry N; Lun, Yi Y; Guillen, Darlene D; Ranes, Brian E BE; Frascella, Michelle M; Soska, Rebecca R; Feng, Jessie J; Dungan, Leo L; Young, Brandy B; Lockhart, David J DJ; Valenzano, Kenneth J KJ
Publication Date: 2012-04

Variant appearance in text: GLA: 155G>C; C52S
PubMed Link: 22215019
Variant Present in the following documents:
  • Main text
  • mt2011271a.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: GLA: C52S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 2
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page