Publications:

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Prevalence of Fabry Disease among Patients with Parkinson's Disease.

Parkinson'S Disease

Lackova, Alexandra A; Beetz, Christian C; Oppermann, Sebastian S; Bauer, Peter P; Pavelekova, Petra P; Lorincova, Tatiana T; Ostrozovicova, Miriam M; Kulcsarova, Kristina K; Cobejova, Jana J; Cobej, Martin M; Levicka, Petra P; Liesenerova, Simona S; Sendekova, Daniela D; Sukovska, Viktoria V; Gdovinova, Zuzana Z; Han, Vladimir V; Rizig, Mie M; Houlden, Henry H; Skorvanek, Matej M

Publication Date: 2022

Variant appearance in text: GLA: Cys172Gly

PubMed Link: 35111290

Variant Present in the following documents:

• Main text
• PD2022-1014950.pdf

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GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Annals Of Translational Medicine

Dong, Zhe-Yi ZY; Wang, Qian Q; Lin, Shu-Peng SP; Chen, Pu P; Liu, Jiao-Na JN; Liu, Shu-Wen SW; Cai, Guang-Yan GY; Chen, Xiang-Mei XM; Hong, Quan Q

Publication Date: 2020-07

Variant appearance in text: GLA: C172G

PubMed Link: 32793709

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 514T>G; C172G

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: C172G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: C172G

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.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: C172G

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.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: 514T>G; C172G

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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