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: 647A>G; Tyr216Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Y216C

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: 647A>G; Tyr216Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 647A>G; Tyr216Cys

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

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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: 647A>G; Y216C

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: Y216C

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: 647A>G; Y216C

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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Immune-Mediated Myocarditis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Frustaci, Andrea A; Verardo, Romina R; Grande, Claudia C; Galea, Nicola N; Piselli, Pierluca P; Carbone, Iacopo I; Alfarano, Maria M; Russo, Matteo Antonio MA; Chimenti, Cristina C

Publication Date: 2018-09-04

Variant appearance in text: GLA: Y216C

PubMed Link: 30371172

Variant Present in the following documents:

• Main text
• JAH3-7-e009052.pdf

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Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

Journal Of Medical Genetics

Mauer, Michael M; Sokolovskiy, Alexey A; Barth, Jay A JA; Castelli, Jeffrey P JP; Williams, Hadis N HN; Benjamin, Elfrida R ER; Najafian, Behzad B

Publication Date: 2017-11

Variant appearance in text: GLA: Y216C

PubMed Link: 28756410

Variant Present in the following documents:

• Main text
• jmedgenet-2017-104826.pdf

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Journal Of Medical Genetics

Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U

Publication Date: 2017-04

Variant appearance in text: GLA: Y216C

PubMed Link: 27834756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: 647A>G; Y216C

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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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: 647A>G; Tyr216Cys

PubMed Link: 25955246

Variant Present in the following documents:

• Main text
• pone.0124987.pdf

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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: Y216C

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 647A>G; Y216C

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Guarracino, Mario R MR; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2010-12-07

Variant appearance in text: GLA: Y216C

PubMed Link: 21138548

Variant Present in the following documents:

• Main text
• 1750-1172-5-36.pdf

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Biochimica Et Biophysica Acta

Filoni, C C; Caciotti, A A; Carraresi, L L; Cavicchi, C C; Parini, R R; Antuzzi, D D; Zampetti, A A; Feriozzi, S S; Poisetti, P P; Garman, S C SC; Guerrini, R R; Zammarchi, E E; Donati, M A MA; Morrone, A A

Publication Date: 2010-02

Variant appearance in text: GLA: 647A>G; Y216C

PubMed Link: 19941952

Variant Present in the following documents:

• Main text

View BVdb publication page

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