Publications:

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

The Biochemical Journal

Seemann, Susanne S; Ernst, Mathias M; Cimmaruta, Chiara C; Struckmann, Stephan S; Cozma, Claudia C; Koczan, Dirk D; Knospe, Anne-Marie AM; Haake, Linda Rebecca LR; Citro, Valentina V; Bräuer, Anja U AU; Andreotti, Giuseppina G; Cubellis, Maria Vittoria MV; Fuellen, Georg G; Hermann, Andreas A; Giese, Anne-Katrin AK; Rolfs, Arndt A; Lukas, Jan J

Publication Date: 2020-01-31

Variant appearance in text: PC: 901C>G

PubMed Link: 31899485

Variant Present in the following documents:

• Main text
• BCJ-477-359.pdf

View BVdb publication page

Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Oncotarget

Di Martino, Maria Teresa MT; Scionti, Francesca F; Sestito, Simona S; Nicoletti, Angela A; Arbitrio, Mariamena M; Hiram Guzzi, Pietro P; Talarico, Valentina V; Altomare, Federica F; Sanseviero, Maria Teresa MT; Agapito, Giuseppe G; Pisani, Antonio A; Riccio, Eleonora E; Borrelli, Osvaldo O; Concolino, Daniela D; Pensabene, Licia L

Publication Date: 2016-12-27

Variant appearance in text: PC: 901C>G

PubMed Link: 27825144

Variant Present in the following documents:

• oncotarget-07-85895.pdf

View BVdb publication page