Publications:

---

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: R100T

PubMed Link: 36345359

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: 299G>C; R100T

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

View BVdb publication page

---

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: R100T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: R100T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: R100T

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page

---

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: 299G>C; R100T

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page

---