α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response-Reference-Cited by-同舟云学术

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

Published:2022-12 Issue: Volume:33 Page:100926
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Consolato Francesco,De Fusco Maurizio,Schaeffer Céline,Pieruzzi Federico,Scolari Francesco,Gallieni Maurizio,Lanzani Chiara,Feriozzi Sandro,Rampoldi Luca

Funder

Amicus Therapeutics

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference27 articles.

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2. Structural characterization of mutant α-galactosidases causing Fabry disease;Sugawara;J. Hum. Genet.,2008

3. Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure;Rickert;J. Intern. Med.,2020

4. Fabry disease: where are we now?;Turkmen;Int. Urol. Nephrol.,2020

5. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat;Benjamin;Genet Med.,2017

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1. The Missense Variant in the Signal Peptide of α-GLA Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway’s Activation;Genes;2024-07-19

2. Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications;Frontiers in Cardiovascular Medicine;2024-06-12

3. Modeling of age-related neurological disease: utility of zebrafish;Frontiers in Aging Neuroscience;2024-05-03

4. An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients;Scientific Reports;2024-04-22

5. The inflammatory pathogenetic pathways of Fabry nephropathy;Rare Disease and Orphan Drugs Journal;2024-04-18