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: 613C>A; Pro205Thr

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: P205T

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.

International Journal Of Molecular Sciences

Limgala, Renuka P RP; Fikry, Jaqueline J; Veligatla, Vasudha V; Goker-Alpan, Ozlem O

Publication Date: 2020-09-29

Variant appearance in text: GLA: P205T

PubMed Link: 33003611

Variant Present in the following documents:

• Main text
• ijms-21-07213.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: P205T

PubMed Link: 32995357

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: 613C>A; P205T

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: P205T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.

American Journal Of Translational Research

Limgala, Renuka P RP; Jennelle, Tabitha T; Plassmeyer, Matthew M; Boutin, Michel M; Lavoie, Pamela P; Abaoui, Mona M; Auray-Blais, Christiane C; Nedd, Khan K; Alpan, Oral O; Goker-Alpan, Ozlem O

Publication Date: 2019

Variant appearance in text: GLA: P205T

PubMed Link: 30972193

Variant Present in the following documents:

• Main text

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GLA: 613C>A; Pro205Thr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: 613C>A; Pro205Thr

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy.

Frontiers In Cardiovascular Medicine

Loso, Jefferson J; Lund, Natalie N; Avanesov, Maxim M; Muschol, Nicole N; Lezius, Susanne S; Cordts, Kathrin K; Schwedhelm, Edzard E; Patten, Monica M

Publication Date: 2018

Variant appearance in text: GLA: P205T

PubMed Link: 30159316

Variant Present in the following documents:

• Main text
• fcvm-05-00108.pdf

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Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.

Frontiers In Neurology

Hauth, Lothar L; Kerstens, Jeroen J; Yperzeele, Laetitia L; Eyskens, François F; Parizel, Paul M PM; Willekens, Barbara B

Publication Date: 2018

Variant appearance in text: GLA: P205T

PubMed Link: 29867742

Variant Present in the following documents:

• Main text
• fneur-09-00336.pdf

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Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Plos One

Lavalle, L L; Thomas, A S AS; Beaton, B B; Ebrahim, H H; Reed, M M; Ramaswami, U U; Elliott, P P; Mehta, A B AB; Hughes, D A DA

Publication Date: 2018

Variant appearance in text: GLA: P205T

PubMed Link: 29621274

Variant Present in the following documents:

• Main text
• pone.0193550.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: P205T

PubMed Link: 27834756

Variant Present in the following documents:

• Main text

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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: P205T

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.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: P205T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: 613C>A; Pro205Thr

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: P205T

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Plos One

Young-Gqamana, Brandy B; Brignol, Nastry N; Chang, Hui-Hwa HH; Khanna, Richie R; Soska, Rebecca R; Fuller, Maria M; Sitaraman, Sheela A SA; Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2013

Variant appearance in text: GLA: P205T

PubMed Link: 23472096

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: P205T

PubMed Link: 23176611

Variant Present in the following documents:

• Main text
• 1750-1172-7-91.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: 613C>A; P205T

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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