Publications:

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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: 1244T>C; Leu415Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: L415P

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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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: 1244T>C; Leu415Pro

PubMed Link: 34205365

Variant Present in the following documents:

• Main text
• cimb-43-00032.pdf

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Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.

Pediatric Rheumatology Online Journal

Paim-Marques, Luciana L; Cavalcante, Amanda Virginia AV; Verçosa, Islane I; Carneiro, Paula P; Souto-Maior, Marcia M; Marques, Erlane E; Appenzeller, Simone S

Publication Date: 2021-06-12

Variant appearance in text: GLA: L415P

PubMed Link: 34118938

Variant Present in the following documents:

• Main text
• 12969_2021_Article_563.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GLA: 1244T>C; Leu415Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: 1244T>C; L415P

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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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: L415P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Indian Journal Of Nephrology

Jaurretche, Sebastián P A SPA; Antongiovanni, Norberto N; Perretta, Fernando F

Publication Date: 2019

Variant appearance in text: GLA: L415P

PubMed Link: 31798221

Variant Present in the following documents:

• Main text

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Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.

Jimd Reports

Frabasil, Joaquín J; Durand, Consuelo C; Sokn, Silvia S; Gaggioli, Daniela D; Carozza, Patricia P; Carabajal, Ricardo R; Politei, Juan J; Schenone, Andrea B AB

Publication Date: 2019-07

Variant appearance in text: GLA: L415P

PubMed Link: 31392112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variables Associated with a Urinary MicroRNAs Excretion Profile Indicative of Renal Fibrosis in Fabry Disease Patients.

International Journal Of Chronic Diseases

Jaurretche, Sebastián S; Perez, Germán G; Antongiovanni, Norberto N; Perretta, Fernando F; Venera, Graciela G

Publication Date: 2019

Variant appearance in text: GLA: L415P

PubMed Link: 31341885

Variant Present in the following documents:

• Main text
• IJCD2019-4027606.pdf

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Fabry Disease with Pacemaker Implantation as the Initial Event.

Internal Medicine (Tokyo, Japan)

Kato, Yuji Y; Ishikawa, Ayako A; Aoki, Satoshi S; Sato, Hiroyuki H; Ojima, Yoshie Y; Kagaya, Saeko S; Nagasawa, Tasuku T

Publication Date: 2019-10-15

Variant appearance in text: GLA: L415P

PubMed Link: 31243236

Variant Present in the following documents:

• Main text
• 1349-7235-58-2993.pdf

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Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 1244T>C; L415P

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

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Major Organic Involvement in Women with Fabry Disease in Argentina.

Thescientificworldjournal

Perretta, Fernando F; Antongiovanni, Norberto N; Jaurretche, Sebastián S

Publication Date: 2018

Variant appearance in text: GLA: L415P

PubMed Link: 29950951

Variant Present in the following documents:

• Main text
• TSWJ2018-6515613.pdf

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Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Maruyama, Hiroki H; Miyata, Kaori K; Mikame, Mariko M; Taguchi, Atsumi A; Guili, Chu C; Shimura, Masaru M; Murayama, Kei K; Inoue, Takeshi T; Yamamoto, Saori S; Sugimura, Koichiro K; Tamita, Koichi K; Kawasaki, Toshihiro T; Kajihara, Jun J; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Teiko T; Murata, Ichijiro I; Oda, Takamasa T; Toyoda, Shigeru S; Hanawa, Kenichiro K; Fujimura, Takeo T; Ura, Shigehisa S; Matsumura, Mimiko M; Takano, Hideki H; Yamashita, Satoshi S; Matsukura, Gaku G; Tazawa, Ryushi R; Shiga, Tsuyoshi T; Ebato, Mio M; Satoh, Hiroshi H; Ishii, Satoshi S

Publication Date: 2019-01

Variant appearance in text: GLA: L415P

PubMed Link: 29543226

Variant Present in the following documents:

• Main text
• 41436_2018_Article_239.pdf

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Early Renal Involvement in a Girl with Classic Fabry Disease.

Case Reports In Nephrology

Perretta, Fernando F; Antongiovanni, Norberto N; Jaurretche, Sebastián S

Publication Date: 2017

Variant appearance in text: GLA: 1244T>C; L415P

PubMed Link: 29098097

Variant Present in the following documents:

• Main text
• CRIN2017-9543079.pdf

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Plos One

Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V

Publication Date: 2017

Variant appearance in text: GLA: 1244T>C

PubMed Link: 28672034

Variant Present in the following documents:

• Main text

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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

Molecular Genetics And Metabolism Reports

Thurberg, Beth L BL; Germain, Dominique P DP; Perretta, Fernando F; Jurca-Simina, Iulia E IE; Politei, Juan M JM

Publication Date: 2017-06

Variant appearance in text: GLA: L415P

PubMed Link: 28649509

Variant Present in the following documents:

• Main text

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Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.

International Journal Of Nephrology

Trimarchi, Hernán H; Canzonieri, Romina R; Schiel, Amalia A; Politei, Juan J; Costales-Collaguazo, Cristian C; Stern, Aníbal A; Paulero, Matías M; Rengel, Tatiana T; Valiño-Rivas, Lara L; Forrester, Mariano M; Lombi, Fernando F; Pomeranz, Vanesa V; Iriarte, Romina R; Muryan, Alexis A; Ortiz, Alberto A; Sanchez-Niño, María Dolores MD; Zotta, Elsa E

Publication Date: 2017

Variant appearance in text: GLA: L415P

PubMed Link: 28523190

Variant Present in the following documents:

• Main text
• IJN2017-1287289.pdf

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Increased urinary CD80 excretion and podocyturia in Fabry disease.

Journal Of Translational Medicine

Trimarchi, H H; Canzonieri, R R; Schiel, A A; Costales-Collaguazo, C C; Politei, J J; Stern, A A; Paulero, M M; Rengel, T T; Andrews, J J; Forrester, M M; Lombi, M M; Pomeranz, V V; Iriarte, R R; Muryan, A A; Zotta, E E; Sanchez-Niño, M D MD; Ortiz, A A

Publication Date: 2016-10-13

Variant appearance in text: GLA: L415P

PubMed Link: 27733175

Variant Present in the following documents:

• Main text
• 12967_2016_Article_1049.pdf

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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: L415P

PubMed Link: 23935525

Variant Present in the following documents:

• Main text

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Barisoni, Laura L; Jennette, Charles J CJ; Bragat, Alexander A; Castelli, Jeff J; Sitaraman, Sheela S; Lockhart, David J DJ; Boudes, Pol F PF

Publication Date: 2012-11-24

Variant appearance in text: GLA: L415P

PubMed Link: 23176611

Variant Present in the following documents:

• Main text
• 1750-1172-7-91.pdf

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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Warnock, David G DG; Ortiz, Alberto A; Mauer, Michael M; Linthorst, Gabor E GE; Oliveira, João P JP; Serra, Andreas L AL; Maródi, László L; Mignani, Renzo R; Vujkovac, Bojan B; Beitner-Johnson, Dana D; Lemay, Roberta R; Cole, J Alexander JA; Svarstad, Einar E; Waldek, Stephen S; Germain, Dominique P DP; Wanner, Christoph C; ,

Publication Date: 2012-03

Variant appearance in text: GLA: L415P

PubMed Link: 21804088

Variant Present in the following documents:

• Main text

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 1244T>C; L415P

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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