Publications:

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IPNA 2022 - Abstract Book.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2023-04-20

Variant appearance in text: GLA: 1066C>T; Arg356Trp

PubMed Link: 37079101

Variant Present in the following documents:

• 467_2022_Article_5865.pdf

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Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.

Iscience

Gambardella, Jessica J; Fiordelisi, Antonella A; Cerasuolo, Federica Andrea FA; Buonaiuto, Antonietta A; Avvisato, Roberta R; Viti, Alessandro A; Sommella, Eduardo E; Merciai, Fabrizio F; Salviati, Emanuela E; Campiglia, Pietro P; D'Argenio, Valeria V; Parisi, Silvia S; Bianco, Antonio A; Spinelli, Letizia L; Di Vaia, Eugenio E; Cuocolo, Alberto A; Pisani, Antonio A; Riccio, Eleonora E; Di Risi, Teodolinda T; Ciccarelli, Michele M; Santulli, Gaetano G; Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2023-03-17

Variant appearance in text: GLA: 1066C>T; Arg356Trp

PubMed Link: 36879801

Variant Present in the following documents:

• Main text
• main.pdf

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Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.

Molecular Genetics And Metabolism Reports

Hopkin, Robert J RJ; Feldt-Rasmussen, Ulla U; Germain, Dominique P DP; Jovanovic, Ana A; Martins, Ana Maria AM; Nicholls, Kathleen K; Ortiz, Alberto A; Politei, Juan J; Ponce, Elvira E; Varas, Carmen C; Weidemann, Frank F; Yang, Meng M; Wilcox, William R WR

Publication Date: 2020-12

Variant appearance in text: GLA: Arg356Trp

PubMed Link: 33163363

Variant Present in the following documents:

• Main text
• main.pdf

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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: R356W

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases

Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-08-26

Variant appearance in text: GLA: 1066C>T

PubMed Link: 32843101

Variant Present in the following documents:

• 13023_2020_Article_1494.pdf

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Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data.

European Journal Of Human Genetics : Ejhg

Riccio, Eleonora E; Zanfardino, Mario M; Ferreri, Lucia L; Santoro, Ciro C; Cocozza, Sirio S; Capuano, Ivana I; Imbriaco, Massimo M; Feriozzi, Sandro S; Pisani, Antonio A; ,

Publication Date: 2020-12

Variant appearance in text: GLA: 1066C>T

PubMed Link: 32647377

Variant Present in the following documents:

• Main text
• 41431_2020_Article_677.pdf

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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: 1066C>T; R356W

PubMed Link: 32023956

Variant Present in the following documents:

• Main text

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 1066C>T; R356W; rs104894827

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.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: R356W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: 1066C>T; Arg356Trp

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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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: R356W

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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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: R356W

PubMed Link: 27916943

Variant Present in the following documents:

• Main text
• ijms-17-02010.pdf

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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: R356W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Jimd Reports

Liu, Hao-Chuan HC; Perrin, Amandine A; Hsu, Ting-Rong TR; Yang, Chia-Feng CF; Lin, Hsiang-Yu HY; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2015

Variant appearance in text: GLA: R356W

PubMed Link: 25762495

Variant Present in the following documents:

• Main text

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Enzyme enhancers for the treatment of Fabry and Pompe disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Lukas, Jan J; Pockrandt, Anne-Marie AM; Seemann, Susanne S; Sharif, Muhammad M; Runge, Franziska F; Pohlers, Susann S; Zheng, Chaonan C; Gläser, Anne A; Beller, Matthias M; Rolfs, Arndt A; Giese, Anne-Katrin AK

Publication Date: 2015-03

Variant appearance in text: GLA: R356W

PubMed Link: 25409744

Variant Present in the following documents:

• Main text

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Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease.

Bmc Nephrology

Burton, James O JO; Dormer, John P JP; Binns, Helen E HE; Pickering, Warren P WP

Publication Date: 2012-07-31

Variant appearance in text: GLA: Arg356Trp

PubMed Link: 22849389

Variant Present in the following documents:

• 1471-2369-13-73.pdf

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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: 1066C>T; R356W

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.

Analytical And Bioanalytical Chemistry

Shi, Zhen-Dan ZD; Motabar, Omid O; Goldin, Ehud E; Liu, Ke K; Southall, Noel N; Sidransky, Ellen E; Austin, Christopher P CP; Griffiths, Gary L GL; Zheng, Wei W

Publication Date: 2009-08

Variant appearance in text: GLA: R356W

PubMed Link: 19521690

Variant Present in the following documents:

• Main text

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Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

The Biochemical Journal

Ishii, Satoshi S; Chang, Hui-Hwa HH; Kawasaki, Kunito K; Yasuda, Kayo K; Wu, Hui-Li HL; Garman, Scott C SC; Fan, Jian-Qiang JQ

Publication Date: 2007-09-01

Variant appearance in text: GLA: R356W

PubMed Link: 17555407

Variant Present in the following documents:

• Main text

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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: 1066C>T; R356W

PubMed Link: 17532296

Variant Present in the following documents:

• Main text

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