Pathologic substrate of gastropathy in Anderson-Fabry disease

In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonst...

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Autores principales: Di Toro, Alessandro, Narula, Nupoor, Giuliani, Lorenzo, Concardi, Monica, Smirnova, Alexandra, Favalli, Valentina, Urtis, Mario, Alvisi, Costanza, Antoniazzi, Elena, Arbustini, Eloisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310490/
https://www.ncbi.nlm.nih.gov/pubmed/32571412
http://dx.doi.org/10.1186/s13023-020-01436-2
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author Di Toro, Alessandro
Narula, Nupoor
Giuliani, Lorenzo
Concardi, Monica
Smirnova, Alexandra
Favalli, Valentina
Urtis, Mario
Alvisi, Costanza
Antoniazzi, Elena
Arbustini, Eloisa
author_facet Di Toro, Alessandro
Narula, Nupoor
Giuliani, Lorenzo
Concardi, Monica
Smirnova, Alexandra
Favalli, Valentina
Urtis, Mario
Alvisi, Costanza
Antoniazzi, Elena
Arbustini, Eloisa
author_sort Di Toro, Alessandro
collection PubMed
description In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls.
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spelling pubmed-73104902020-06-23 Pathologic substrate of gastropathy in Anderson-Fabry disease Di Toro, Alessandro Narula, Nupoor Giuliani, Lorenzo Concardi, Monica Smirnova, Alexandra Favalli, Valentina Urtis, Mario Alvisi, Costanza Antoniazzi, Elena Arbustini, Eloisa Orphanet J Rare Dis Letter to the Editor In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls. BioMed Central 2020-06-22 /pmc/articles/PMC7310490/ /pubmed/32571412 http://dx.doi.org/10.1186/s13023-020-01436-2 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Letter to the Editor
Di Toro, Alessandro
Narula, Nupoor
Giuliani, Lorenzo
Concardi, Monica
Smirnova, Alexandra
Favalli, Valentina
Urtis, Mario
Alvisi, Costanza
Antoniazzi, Elena
Arbustini, Eloisa
Pathologic substrate of gastropathy in Anderson-Fabry disease
title Pathologic substrate of gastropathy in Anderson-Fabry disease
title_full Pathologic substrate of gastropathy in Anderson-Fabry disease
title_fullStr Pathologic substrate of gastropathy in Anderson-Fabry disease
title_full_unstemmed Pathologic substrate of gastropathy in Anderson-Fabry disease
title_short Pathologic substrate of gastropathy in Anderson-Fabry disease
title_sort pathologic substrate of gastropathy in anderson-fabry disease
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310490/
https://www.ncbi.nlm.nih.gov/pubmed/32571412
http://dx.doi.org/10.1186/s13023-020-01436-2
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