Publications:

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

Molecular Genetics And Metabolism Reports

Consolato, Francesco F; De Fusco, Maurizio M; Schaeffer, Céline C; Pieruzzi, Federico F; Scolari, Francesco F; Gallieni, Maurizio M; Lanzani, Chiara C; Feriozzi, Sandro S; Rampoldi, Luca L

Publication Date: 2022-12

Variant appearance in text: GLA: A156V

PubMed Link: 36345359

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Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.

International Journal Of Molecular Sciences

Braunstein, Hila H; Papazian, Maria M; Maor, Gali G; Lukas, Jan J; Rolfs, Arndt A; Horowitz, Mia M

Publication Date: 2020-10-07

Variant appearance in text: GLA: A156V

PubMed Link: 33036426

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: A156V

PubMed Link: 32995357

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Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases.

Journal Of Clinical Medicine

Ivanova, Margarita M

Publication Date: 2020-04-14

Variant appearance in text: GLA: A156V

PubMed Link: 32295103

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• Main text
• jcm-09-01116.pdf

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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: 467C>T; A156V

PubMed Link: 32023956

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• 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: A156V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences

Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P

Publication Date: 2018-11-23

Variant appearance in text: GLA: A156V

PubMed Link: 30477121

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• ijms-19-03726.pdf

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

Journal Of Visualized Experiments : Jove

Lukas, Jan J; Knospe, Anne-Marie AM; Seemann, Susanne S; Citro, Valentina V; Cubellis, Maria V MV; Rolfs, Arndt A

Publication Date: 2017-12-20

Variant appearance in text: GLA: A156V

PubMed Link: 29286471

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences

Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016-12-01

Variant appearance in text: GLA: A156V

PubMed Link: 27916943

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• ijms-17-02010.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: A156V

PubMed Link: 26206375

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• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Enzyme enhancers for the treatment of Fabry and Pompe disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Lukas, Jan J; Pockrandt, Anne-Marie AM; Seemann, Susanne S; Sharif, Muhammad M; Runge, Franziska F; Pohlers, Susann S; Zheng, Chaonan C; Gläser, Anne A; Beller, Matthias M; Rolfs, Arndt A; Giese, Anne-Katrin AK

Publication Date: 2015-03

Variant appearance in text: GLA: A156V

PubMed Link: 25409744

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: A156V

PubMed Link: 23935525

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• Main text
• pgen.1003632.pdf

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 467C>T; A156V

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

The Biochemical Journal

Ishii, Satoshi S; Chang, Hui-Hwa HH; Kawasaki, Kunito K; Yasuda, Kayo K; Wu, Hui-Li HL; Garman, Scott C SC; Fan, Jian-Qiang JQ

Publication Date: 2007-09-01

Variant appearance in text: GLA: A156V

PubMed Link: 17555407

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