GLA c.982G>C ;(p.G328R)

Variant ID: X-100653375-C-G

NM_000169.2(GLA):c.982G>C;(p.G328R)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

International Journal Of Molecular Sciences
Iacobucci, Ilaria I; Hay Mele, Bruno B; Cozzolino, Flora F; Monaco, Vittoria V; Cimmaruta, Chiara C; Monti, Maria M; Andreotti, Giuseppina G; Monticelli, Maria M
Publication Date: 2023-02-25

Variant appearance in text: GLA: G328R
PubMed Link: 36901983
Variant Present in the following documents:
  • Main text
  • ijms-24-04548.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GLA: 982G>C; Gly328Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes
Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP
Publication Date: 2022-09-09

Variant appearance in text: GLA: 982G>C; Gly328Arg
PubMed Link: 36140787
Variant Present in the following documents:
  • genes-13-01619.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: G328R
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09

Variant appearance in text: GLA: Gly328Arg
PubMed Link: 34535801
Variant Present in the following documents:
  • Main text
  • gfab234.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19

Variant appearance in text: GLA: Gly328Arg
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31

Variant appearance in text: GLA: Gly328Arg
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

Frontiers In Genetics
Cainelli, Francesca F; Argandykov, Dias D; Kaldarbekov, Dauren D; Mukarov, Murat M; Tran Thi Phuong, Liên L; Germain, Dominique P DP
Publication Date: 2021

Variant appearance in text: GLA: Gly328Arg
PubMed Link: 33986771
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fabry Disease and the Heart: A Comprehensive Review.

International Journal Of Molecular Sciences
Azevedo, Olga O; Cordeiro, Filipa F; Gago, Miguel Fernandes MF; Miltenberger-Miltenyi, Gabriel G; Ferreira, Catarina C; Sousa, Nuno N; Cunha, Damião D
Publication Date: 2021-04-23

Variant appearance in text: GLA: G328R
PubMed Link: 33922740
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G328R
PubMed Link: 33835733
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1666.pdf
View BVdb publication page



The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International Journal Of Molecular Sciences
Sorriento, Daniela D; Iaccarino, Guido G
Publication Date: 2021-01-29

Variant appearance in text: GLA: G328R
PubMed Link: 33572752
Variant Present in the following documents:
  • Main text
  • ijms-22-01331.pdf
View BVdb publication page



Fabry disease pain: patient and preclinical parallels.

Pain
Burand, Anthony J AJ; Stucky, Cheryl L CL
Publication Date: 2021-05-01

Variant appearance in text: GLA: G328R
PubMed Link: 33259456
Variant Present in the following documents:
  • Main text
  • jop-162-1305.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: G328R
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Developments in the treatment of Fabry disease.

Journal Of Inherited Metabolic Disease
van der Veen, Sanne J SJ; Hollak, Carla E M CEM; van Kuilenburg, André B P ABP; Langeveld, Mirjam M
Publication Date: 2020-09

Variant appearance in text: GLA: G328R
PubMed Link: 32083331
Variant Present in the following documents:
  • Main text
  • JIMD-43-908.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: G328R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Nephron
Moiseev, Sergey S; Fomin, Victor V; Savostyanov, Kirill K; Pushkov, Alexander A; Moiseev, Alexey A; Svistunov, Andrey A; Namazova-Baranova, Leyla L
Publication Date: 2019

Variant appearance in text: GLA: 982G>C; G328R
PubMed Link: 30677769
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Brand, Eva E; Burlina, Alessandro A; Cecchi, Franco F; Garman, Scott C SC; Kempf, Judy J; Laney, Dawn A DA; Linhart, Aleš A; Maródi, László L; Nicholls, Kathy K; Ortiz, Alberto A; Pieruzzi, Federico F; Shankar, Suma P SP; Waldek, Stephen S; Wanner, Christoph C; Jovanovic, Ana A
Publication Date: 2018-04-12

Variant appearance in text: GLA: G328R
PubMed Link: 29649853
Variant Present in the following documents:
  • Main text
  • MGG3-6-492.pdf
View BVdb publication page



Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.

Physiological Reviews
Tao, Ya-Xiong YX; Conn, P Michael PM
Publication Date: 2018-04-01

Variant appearance in text: GLA: G328R
PubMed Link: 29442594
Variant Present in the following documents:
  • Main text
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: G328R
PubMed Link: 27356758
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases
Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E
Publication Date: 2016-05-04

Variant appearance in text: GLA: G328R
PubMed Link: 27142856
Variant Present in the following documents:
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: G328R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Plos One
Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U
Publication Date: 2015

Variant appearance in text: GLA: 982G>C; Gly328Arg
PubMed Link: 25955246
Variant Present in the following documents:
  • Main text
  • pone.0124987.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: G328R
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page



Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences
Ishii, Satoshi S
Publication Date: 2012

Variant appearance in text: GLA: G328R
PubMed Link: 22241068
Variant Present in the following documents:
  • pjab-88-018.pdf
View BVdb publication page



Screening for pharmacological chaperones in Fabry disease.

Biochemical And Biophysical Research Communications
Shin, Sang-Hoon SH; Murray, Gary J GJ; Kluepfel-Stahl, Stefanie S; Cooney, Adele M AM; Quirk, Jane M JM; Schiffmann, Raphael R; Brady, Roscoe O RO; Kaneski, Christine R CR
Publication Date: 2007-07-20

Variant appearance in text: GLA: G328R
PubMed Link: 17532296
Variant Present in the following documents:
  • Main text
View BVdb publication page