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

Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declaration of Competing Interest This work was supported by a grant from 10.13039/100015362Amicus Therapeutics, United States [Investigator Initiated Program] (to L.R.). The funding source had no involvement in the research here presented at any stage."

Evidence found in paper:

"This work was supported by a grant from Amicus Therapeutics [Investigator Initiated Program] (to L.R.). We thank the San Raffaele Alembic facility for technical assistance. This work was supported by a grant from 10.13039/100015362Amicus Therapeutics, United States [Investigator Initiated Program] (to L.R.). The funding source had no involvement in the research here presented at any stage."

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Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025