Publications:

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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: T385A

PubMed Link: 36292636

Variant Present in the following documents:

• genes-13-01751.pdf

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Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association

Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G

Publication Date: 2022-01-04

Variant appearance in text: GLA: 1153A>G; Thr385Ala

PubMed Link: 34935411

Variant Present in the following documents:

• JAH3-11-e022854.pdf
• JAH3-11-e022854-s001.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: T385A

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.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: 1153A>G; Thr385Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3

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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: 1153A>G; T385A

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: T385A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: GLA: 1153A>G; Thr385Ala; rs397515869

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Christiaans, I I; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH

Publication Date: 2019-06

Variant appearance in text: GLA: 1153A>G; Thr385Ala

PubMed Link: 30847665

Variant Present in the following documents:

• Main text
• 12471_2019_Article_1251.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: T385A

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Journal Of Medical Genetics

Arends, Maarten M; Biegstraaten, Marieke M; Wanner, Christoph C; Sirrs, Sandra S; Mehta, Atul A; Elliott, Perry M PM; Oder, Daniel D; Watkinson, Oliver T OT; Bichet, Daniel G DG; Khan, Aneal A; Iwanochko, Mark M; Vaz, Frédéric M FM; van Kuilenburg, André B P ABP; West, Michael L ML; Hughes, Derralynn A DA; Hollak, Carla E M CEM

Publication Date: 2018-05

Variant appearance in text: GLA: T385A

PubMed Link: 29437868

Variant Present in the following documents:

• jmedgenet-2017-104863supp001.pdf

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Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Journal Of Inherited Metabolic Disease

Arends, Maarten M; Körver, Simon S; Hughes, Derralynn A DA; Mehta, Atul A; Hollak, Carla E M CEM; Biegstraaten, Marieke M

Publication Date: 2018-01

Variant appearance in text: GLA: T385A

PubMed Link: 29039131

Variant Present in the following documents:

• 10545_2017_95_MOESM1_ESM.pdf

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Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Plos One

Arends, Maarten M; Biegstraaten, Marieke M; Hughes, Derralynn A DA; Mehta, Atul A; Elliott, Perry M PM; Oder, Daniel D; Watkinson, Oliver T OT; Vaz, Frédéric M FM; van Kuilenburg, André B P ABP; Wanner, Christoph C; Hollak, Carla E M CEM

Publication Date: 2017

Variant appearance in text: GLA: T385A

PubMed Link: 28763515

Variant Present in the following documents:

• pone.0182379.s004.pdf

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Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

Journal Of The American Society Of Nephrology : Jasn

Arends, Maarten M; Wanner, Christoph C; Hughes, Derralynn D; Mehta, Atul A; Oder, Daniel D; Watkinson, Oliver T OT; Elliott, Perry M PM; Linthorst, Gabor E GE; Wijburg, Frits A FA; Biegstraaten, Marieke M; Hollak, Carla E CE

Publication Date: 2017-05

Variant appearance in text: GLA: T385A

PubMed Link: 27979989

Variant Present in the following documents:

• Main text

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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: T385A

PubMed Link: 27916943

Variant Present in the following documents:

• Main text
• ijms-17-02010.pdf

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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: T385A

PubMed Link: 25409744

Variant Present in the following documents:

• Main text

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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: T385A

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

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