GLA c.376A>G ;(p.S126G)

Variant ID: X-100656791-T-C

NM_000169.2(GLA):c.376A>G;(p.S126G)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.

Anatolian Journal Of Cardiology
Özpelit, Ebru E; Çavuşoğlu, Yüksel Y; Yorgun, Hikmet H; Ökçün, Emir Özgür Barış EÖB; Eker Akıllı, Rabia R; Çelik, Ahmet A; Ermiş, Necip N; Gerede Uludağ, Demet Menekşe DM; Kahveci, Gokhan G; Uslu Çil, Şefika Ş; Erfidan, Erkan E; Tufekcioglu, Omaç O
Publication Date: 2023-04

Variant appearance in text: GLA: 376A>G; S126G; rs149391489
PubMed Link: 36995061
Variant Present in the following documents:
  • Main text
  • ajc-27-4-223.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: GLA: S126G
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet Journal Of Rare Diseases
Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R
Publication Date: 2023-01-09

Variant appearance in text: GLA: 376A>G; Ser126Gly
PubMed Link: 36624527
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2599.pdf
View BVdb publication page



Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists.

Genes
Jaurretche, Sebastián S; Conde, Hernan H; Gonzalez Schain, Ana A; Ruiz, Franco F; Sgro, Maria Victoria MV; Venera, Graciela G
Publication Date: 2022-09-28

Variant appearance in text: GLA: S126G
PubMed Link: 36292636
Variant Present in the following documents:
  • genes-13-01751.pdf
View BVdb publication page



Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.

Esc Heart Failure
Zemánek, David D; Januška, Jaroslav J; Honěk, Tomáš T; Čurila, Karol K; Kubánek, Miloš M; Šindelářová, Štěpánka Š; Zahálková, Lucie L; Klofáč, Petr P; Laštůvková, Eliška E; Lichnerová, Eva E; Aiglová, Renata R; Lhotský, Jan J; Vondrák, Jiří J; Dostálová, Gabriela G; Táborský, Miloš M; Kasper, David D; Linhart, Aleš A
Publication Date: 2022-09-10

Variant appearance in text: GLA: S126G
PubMed Link: 36087038
Variant Present in the following documents:
  • Main text
  • EHF2-9-4160.pdf
View BVdb publication page



Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics
Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C
Publication Date: 2022

Variant appearance in text: GLA: S126G
PubMed Link: 35722479
Variant Present in the following documents:
  • Main text
  • fped-10-908657.pdf
View BVdb publication page



Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).

Molecular Genetics & Genomic Medicine
Lau, Kolja K; Üçeyler, Nurcan N; Cairns, Tereza T; Lorenz, Lora L; Sommer, Claudia C; Schindehütte, Magnus M; Amann, Kerstin K; Wanner, Christoph C; Nordbeck, Peter P
Publication Date: 2022-05

Variant appearance in text: GLA: 376A>G; Ser126Gly; rs149391489
PubMed Link: 35212486
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1912.pdf
View BVdb publication page



Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Clinical Genetics
Germain, Dominique P DP; Levade, Thierry T; Hachulla, Eric E; Knebelmann, Bertrand B; Lacombe, Didier D; Seguin, Vanessa Leguy VL; Nguyen, Karine K; Noël, Esther E; Rabès, Jean-Pierre JP
Publication Date: 2022-04

Variant appearance in text: GLA: 376A>G; Ser126Gly
PubMed Link: 34927718
Variant Present in the following documents:
  • Main text
  • CGE-101-390.pdf
View BVdb publication page



Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.

Frontiers In Immunology
Pollmann, Solvey S; Scharnetzki, David D; Manikowski, Dominique D; Lenders, Malte M; Brand, Eva E
Publication Date: 2021

Variant appearance in text: GLA: S126G
PubMed Link: 34917096
Variant Present in the following documents:
  • Main text
  • fimmu-12-789142.pdf
View BVdb publication page



High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27

Variant appearance in text: GLA: S126G
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology
Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S
Publication Date: 2021-06-19

Variant appearance in text: GLA: Ser126Gly
PubMed Link: 34205365
Variant Present in the following documents:
  • Main text
  • cimb-43-00032.pdf
View BVdb publication page



Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Biomolecules
Gragnaniello, Vincenza V; Burlina, Alessandro P AP; Polo, Giulia G; Giuliani, Antonella A; Salviati, Leonardo L; Duro, Giovanni G; Cazzorla, Chiara C; Rubert, Laura L; Maines, Evelina E; Germain, Dominique P DP; Burlina, Alberto B AB
Publication Date: 2021-06-27

Variant appearance in text: GLA: 376A>G; Ser126Gly
PubMed Link: 34199132
Variant Present in the following documents:
  • Main text
  • biomolecules-11-00951.pdf
View BVdb publication page



Corneal densitometry: a potential indicator for early diagnosis of Fabry disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Li, Senmao S; Siggel, Robert R; Guo, Yongwei Y; Loreck, Niklas N; Rokohl, Alexander C AC; Kurschat, Christine C; Heindl, Ludwig M LM
Publication Date: 2021-04

Variant appearance in text: GLA: 376A>G; S126G
PubMed Link: 33258999
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: GLA: S126G
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.

Biomedicines
Veroux, Massimiliano M; Monte, Ines P IP; Rodolico, Margherita S MS; Corona, Daniela D; Bella, Rita R; Basile, Antonio A; Palmucci, Stefano S; Pistorio, Maria L ML; Lanza, Giuseppe G; De Pasquale, Concetta C; Veroux, Pierfrancesco P
Publication Date: 2020-10-07

Variant appearance in text: GLA: 376A>G; Ser126Gly
PubMed Link: 33036343
Variant Present in the following documents:
  • Main text
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: S126G
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease.

Brain Sciences
Vagli, Carla C; Fisicaro, Francesco F; Vinciguerra, Luisa L; Puglisi, Valentina V; Rodolico, Margherita Stefania MS; Giordano, Antonello A; Ferri, Raffaele R; Lanza, Giuseppe G; Bella, Rita R
Publication Date: 2020-08-12

Variant appearance in text: GLA: S126G
PubMed Link: 32806660
Variant Present in the following documents:
  • Main text
  • brainsci-10-00546.pdf
View BVdb publication page



Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics
Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG
Publication Date: 2020-08

Variant appearance in text: GLA: Ser126Gly
PubMed Link: 32161151
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: 376A>G; S126G
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: S126G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Molecular Genetics And Metabolism Reports
Schiffmann, Raphael R; Bichet, Daniel G DG; Benjamin, Elfrida E; Wu, Xiaoyang X; Giugliani, Roberto R
Publication Date: 2019-09

Variant appearance in text: GLA: S126G
PubMed Link: 31367522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Scientific Reports
Hernández-Romero, Diana D; Sánchez-Quiñones, Jessica J; Vílchez, Juan Antonio JA; Rivera-Caravaca, José Miguel JM; de la Morena, Gonzalo G; Lip, Gregory Y H GYH; Climent, Vicente V; Marín, Francisco F
Publication Date: 2019-04-17

Variant appearance in text: GLA: S126G
PubMed Link: 30996283
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42727.pdf
View BVdb publication page



Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clinical Genetics
Germain, Dominique P DP; Fouilhoux, Alain A; Decramer, Stéphane S; Tardieu, Marine M; Pillet, Pascal P; Fila, Marc M; Rivera, Serge S; Deschênes, Georges G; Lacombe, Didier D
Publication Date: 2019-08

Variant appearance in text: GLA: Ser126Gly
PubMed Link: 30941742
Variant Present in the following documents:
  • Main text
  • CGE-96-107.pdf
View BVdb publication page



Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.

Jimd Reports
Talbot, Andrew A; Nicholls, Kathy K
Publication Date: 2019

Variant appearance in text: GLA: S126G
PubMed Link: 30569317
Variant Present in the following documents:
  • Main text
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: S126G
PubMed Link: 30477121
Variant Present in the following documents:
  • Main text
  • ijms-19-03726.pdf
View BVdb publication page



Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I
Publication Date: 2019-02

Variant appearance in text: GLA: 376A>G; S126G
PubMed Link: 29875424
Variant Present in the following documents:
  • 41436_2018_46_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.

Oncotarget
Colomba, Paolo P; Zizzo, Carmela C; Alessandro, Riccardo R; Cammarata, Giuseppe G; Scalia, Simone S; Giordano, Antonello A; Pieroni, Maurizio M; Sicurella, Luigi L; Amico, Luisa L; Burlina, Alessandro A; Duro, Giovanni G
Publication Date: 2018-01-30

Variant appearance in text: GLA: S126G
PubMed Link: 29487688
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7758.pdf
View BVdb publication page



Newborn screening for Fabry disease in the north-west of Spain.

European Journal Of Pediatrics
Colon, Cristobal C; Ortolano, Saida S; Melcon-Crespo, Cristina C; Alvarez, Jose V JV; Lopez-Suarez, Olalla E OE; Couce, Maria L ML; Fernández-Lorenzo, José R JR
Publication Date: 2017-08

Variant appearance in text: GLA: 376A>G; S126G
PubMed Link: 28646478
Variant Present in the following documents:
  • Main text
  • 431_2017_Article_2950.pdf
View BVdb publication page



The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences
Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G
Publication Date: 2016-12-01

Variant appearance in text: GLA: S126G
PubMed Link: 27916943
Variant Present in the following documents:
  • Main text
  • ijms-17-02010.pdf
View BVdb publication page



Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases
Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E
Publication Date: 2016-06-29

Variant appearance in text: GLA: S126G
PubMed Link: 27356758
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_473.pdf
View BVdb publication page



No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

Plos One
de Greef, Bianca T A BT; Hoeijmakers, Janneke G J JG; Wolters, Emma E EE; Smeets, Hubertus J M HJ; van den Wijngaard, Arthur A; Merkies, Ingemar S J IS; Faber, Catharina G CG; Gerrits, Monique M MM
Publication Date: 2016

Variant appearance in text: GLA: 376A>G; Ser126Gly
PubMed Link: 26866599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.

Bmc Neurology
Fancellu, Laura L; Borsini, Walter W; Romani, Ilaria I; Pirisi, Angelo A; Deiana, Giovanni Andrea GA; Sechi, Elia E; Doneddu, Pietro Emiliano PE; Rassu, Anna Laura AL; Demurtas, Rita R; Scarabotto, Anna A; Cassini, Pamela P; Arbustini, Eloisa E; Sechi, GianPietro G
Publication Date: 2015-12-12

Variant appearance in text: GLA: S126G
PubMed Link: 26652600
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_513.pdf
View BVdb publication page



Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

Plos One
Böttcher, Tobias T; Rolfs, Arndt A; Tanislav, Christian C; Bitsch, Andreas A; Köhler, Wolfgang W; Gaedeke, Jens J; Giese, Anne-Katrin AK; Kolodny, Edwin H EH; Duning, Thomas T
Publication Date: 2013

Variant appearance in text: GLA: 376A>G; S126G
PubMed Link: 24015197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013

Variant appearance in text: GLA: S126G
PubMed Link: 23935525
Variant Present in the following documents:
  • Main text
  • pgen.1003632.pdf
View BVdb publication page



Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Maruyama, Hiroki H; Takata, Takuma T; Tsubata, Yutaka Y; Tazawa, Ryushi R; Goto, Kiyoe K; Tohyama, Jun J; Narita, Ichiei I; Yoshioka, Hidekatsu H; Ishii, Satoshi S
Publication Date: 2013-04

Variant appearance in text: GLA: S126G
PubMed Link: 23307880
Variant Present in the following documents:
  • Main text
View BVdb publication page