Publications:

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Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement.

Journal Of Clinical Medicine

Frustaci, Andrea A; Verardo, Romina R; Scialla, Rossella R; Bagnato, Giulia G; Verardo, Margherita M; Alfarano, Maria M; Russo, Matteo A MA

Publication Date: 2022-09-16

Variant appearance in text: GLA: 668G>A; C223Y

PubMed Link: 36143092

Variant Present in the following documents:

• jcm-11-05440.pdf

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Jimd Reports

Nampoothiri, Sheela S; Yesodharan, Dhanya D; Bhattacherjee, Amrita A; Ahamed, Hisham H; Puri, Ratna Dua RD; Gupta, Neerja N; Kabra, Madhulika M; Ranganath, Prajnya P; Bhat, Meenakshi M; Phadke, Shubha S; Radha Rama Devi, Akella A; Jagadeesh, Sujatha S; Danda, Sumita S; Sylaja, Padmavathy Narayana PN; Mandal, Kausik K; Bijarnia-Mahay, Sunita S; Makkar, Ravinder R; Verma, Ishwar Chander IC; Dalal, Ashwin A; Ramaswami, Uma U

Publication Date: 2020-11

Variant appearance in text: GLA: Cys223Tyr

PubMed Link: 33204599

Variant Present in the following documents:

• Main text
• JMD2-56-82.pdf

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The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.

International Journal Of Molecular Sciences

Limgala, Renuka P RP; Fikry, Jaqueline J; Veligatla, Vasudha V; Goker-Alpan, Ozlem O

Publication Date: 2020-09-29

Variant appearance in text: GLA: C223Y

PubMed Link: 33003611

Variant Present in the following documents:

• Main text
• ijms-21-07213.pdf

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Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy.

Biomolecules

Ivanova, Margarita M MM; Dao, Julia J; Kasaci, Neil N; Adewale, Benjamin B; Fikry, Jacqueline J; Goker-Alpan, Ozlem O

Publication Date: 2020-05-30

Variant appearance in text: GLA: C223Y

PubMed Link: 32486191

Variant Present in the following documents:

• biomolecules-10-00837-s001.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: C223Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.

American Journal Of Translational Research

Limgala, Renuka P RP; Jennelle, Tabitha T; Plassmeyer, Matthew M; Boutin, Michel M; Lavoie, Pamela P; Abaoui, Mona M; Auray-Blais, Christiane C; Nedd, Khan K; Alpan, Oral O; Goker-Alpan, Ozlem O

Publication Date: 2019

Variant appearance in text: GLA: 668G>A

PubMed Link: 30972193

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C223Y

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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Immune-Mediated Myocarditis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Frustaci, Andrea A; Verardo, Romina R; Grande, Claudia C; Galea, Nicola N; Piselli, Pierluca P; Carbone, Iacopo I; Alfarano, Maria M; Russo, Matteo Antonio MA; Chimenti, Cristina C

Publication Date: 2018-09-04

Variant appearance in text: GLA: C223Y

PubMed Link: 30371172

Variant Present in the following documents:

• Main text
• JAH3-7-e009052.pdf

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: C223Y

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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Cognitive and psychological functioning in Fabry disease.

Archives Of Clinical Neuropsychology : The Official Journal Of The National Academy Of Neuropsychologists

Sigmundsdottir, Linda L; Tchan, Michel C MC; Knopman, Alex A AA; Menzies, Graham C GC; Batchelor, Jennifer J; Sillence, David O DO

Publication Date: 2014-11

Variant appearance in text: GLA: C223Y

PubMed Link: 25319043

Variant Present in the following documents:

• Main text

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: C223Y

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.

Jimd Reports

Cheung, R R; Sillence, D O DO; Tchan, M C MC

Publication Date: 2012

Variant appearance in text: GLA: C223Y

PubMed Link: 23430946

Variant Present in the following documents:

• Main text

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