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: 485G>A; Trp162Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.

Biomedicines

Rusu, Elena-Emanuela EE; Zilisteanu, Diana-Silvia DS; Ciobotaru, Lucia-Mihaela LM; Gherghiceanu, Mihaela M; Procop, Alexandru A; Jurcut, Ruxandra-Oana RO; Dulamea, Adriana Octaviana AO; Sorohan, Bogdan Marian BM

Publication Date: 2022-06-27

Variant appearance in text: GLA: 485G>A

PubMed Link: 35884826

Variant Present in the following documents:

• Main text
• biomedicines-10-01520.pdf

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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

International Journal Of Molecular Sciences

La Cognata, Valentina V; Guarnaccia, Maria M; Morello, Giovanna G; Ruggieri, Martino M; Polizzi, Agata A; Cavallaro, Sebastiano S

Publication Date: 2021-09-17

Variant appearance in text: GLA: 485G>A; Trp162Ter

PubMed Link: 34576242

Variant Present in the following documents:

• Main text
• ijms-22-10064.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: GLA: 485G>A

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: Trp162*

PubMed Link: 32161151

Variant Present in the following documents:

• Main text

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Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal

Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R

Publication Date: 2019

Variant appearance in text: GLA: W162*

PubMed Link: 32042454

Variant Present in the following documents:

• Main text
• CHSJ-45-3-272.pdf

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A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology.

Stem Cell Reports

Birket, Matthew J MJ; Raibaud, Sophie S; Lettieri, Miriam M; Adamson, Antony D AD; Letang, Valerie V; Cervello, Pauline P; Redon, Nicolas N; Ret, Gwenaelle G; Viale, Sandra S; Wang, Bing B; Biton, Bruno B; Guillemot, Jean-Claude JC; Mikol, Vincent V; Leonard, John P JP; Hanley, Neil A NA; Orsini, Cecile C; Itier, Jean-Michel JM

Publication Date: 2019-08-13

Variant appearance in text: GLA: 485G>A; W162X

PubMed Link: 31378672

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc5.pdf
• main.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: W162X

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Human Molecular Genetics

Welford, R W D RWD; Mühlemann, A A; Garzotti, M M; Rickert, V V; Groenen, P M A PMA; Morand, O O; Üçeyler, N N; Probst, M R MR

Publication Date: 2018-10-01

Variant appearance in text: GLA: 485G>A

PubMed Link: 29982630

Variant Present in the following documents:

• Main text
• ddy248.pdf

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: GLA: W162X

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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Human-induced pluripotent stem cell approaches to model inborn and acquired metabolic heart diseases.

Current Opinion In Cardiology

Chanana, Anita M AM; Rhee, June-Wha JW; Wu, Joseph C JC

Publication Date: 2016-05

Variant appearance in text: GLA: 485G>A

PubMed Link: 27022891

Variant Present in the following documents:

• Main text

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Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Journal Of Lipid Research

Kaneski, Christine R CR; Schiffmann, Raphael R; Brady, Roscoe O RO; Murray, Gary J GJ

Publication Date: 2010-09

Variant appearance in text: GLA: W162X

PubMed Link: 20526001

Variant Present in the following documents:

• Main text

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