Publications:

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules

Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-12-10

Variant appearance in text: GLA: Trp47Arg

PubMed Link: 34944500

Variant Present in the following documents:

• Main text
• biomolecules-11-01856.pdf

View BVdb publication page

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules

Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-12-10

Variant appearance in text: GLA: Trp47Arg

PubMed Link: 34944500

Variant Present in the following documents:

• Main text
• biomolecules-11-01856.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: W47R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 139T>C; W47R

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H

Publication Date: 2014

Variant appearance in text: GLA: W47R

PubMed Link: 27896103

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page