GLA c.729G>C ;(p.L243F)

Variant ID: X-100653845-C-G

NM_000169.2(GLA):c.729G>C;(p.L243F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Moiseev, Sergey S; Suárez-Obando, Fernando F; Al Ismaili, Faisal F; Al Khawaja, Huda H; Altarescu, Gheona G; Barreto, Fellype C FC; Haddoum, Farid F; Hadipour, Fatemeh F; Maksimova, Irina I; Kramis, Mirelle M; Nampoothiri, Sheela S; Nguyen, Khanh Ngoc KN; Niu, Dau-Ming DM; Politei, Juan J; Ro, Long-Sun LS; Vu Chi, Dung D; Chen, Nan N; Kutsev, Sergey S
Publication Date: 2021-05

Variant appearance in text: GLA: 729G>C; Leu243Phe; rs397515874
PubMed Link: 33835733
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1666.pdf
View BVdb publication page



In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development
Lenders, Malte M; Stappers, Franciska F; Brand, Eva E
Publication Date: 2020-12-11

Variant appearance in text: GLA: L243F
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn
Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M
Publication Date: 2020-04

Variant appearance in text: GLA: 729G>C; Leu243Phe
PubMed Link: 32127409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 729G>C; L243F
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.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: L243F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C
Publication Date: 2019-09

Variant appearance in text: GLA: 729G>C; L243F
PubMed Link: 30723321
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_451.pdf
View BVdb publication page



Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences
Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P
Publication Date: 2018-11-23

Variant appearance in text: GLA: L243F
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
  • ijms-19-03726.pdf
View BVdb publication page



Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Orphanet Journal Of Rare Diseases
Mauhin, Wladimir W; Lidove, Olivier O; Amelin, Damien D; Lamari, Foudil F; Caillaud, Catherine C; Mingozzi, Federico F; Dzangué-Tchoupou, Gaëlle G; Arouche-Delaperche, Louiza L; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Froissart, Roseline R; Lacombe, Didier D; Ziza, Jean Marc JM; Hachulla, Eric E; Benveniste, Olivier O
Publication Date: 2018-07-31

Variant appearance in text: GLA: 729G>C; Leu243Phe
PubMed Link: 30064518
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_877.pdf
View BVdb publication page



Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

Journal Of Medical Genetics
Mauer, Michael M; Sokolovskiy, Alexey A; Barth, Jay A JA; Castelli, Jeffrey P JP; Williams, Hadis N HN; Benjamin, Elfrida R ER; Najafian, Behzad B
Publication Date: 2017-11

Variant appearance in text: GLA: 729G>C; L243F
PubMed Link: 28756410
Variant Present in the following documents:
  • Main text
  • jmedgenet-2017-104826.pdf
View BVdb publication page