Publications:

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α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.

Molecular Genetics And Metabolism Reports

Consolato, Francesco F; De Fusco, Maurizio M; Schaeffer, Céline C; Pieruzzi, Federico F; Scolari, Francesco F; Gallieni, Maurizio M; Lanzani, Chiara C; Feriozzi, Sandro S; Rampoldi, Luca L

Publication Date: 2022-12

Variant appearance in text: GLA: A288D

PubMed Link: 36345359

Variant Present in the following documents:

• Main text
• main.pdf

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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: 863C>A

PubMed Link: 35884826

Variant Present in the following documents:

• Main text
• biomedicines-10-01520.pdf

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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: A288D

PubMed Link: 32042454

Variant Present in the following documents:

• Main text
• CHSJ-45-3-272.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: A288D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: GLA: A288D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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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: A288D

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: A288D

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.

Plos One

Lelieveld, Irene M IM; Böttcher, Anna A; Hennermann, Julia B JB; Beck, Michael M; Fellgiebel, Andreas A

Publication Date: 2015

Variant appearance in text: GLA: A288D

PubMed Link: 26340726

Variant Present in the following documents:

• pone.0137603.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: A288D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: A288D

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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