Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity. This deficiency causes progressive accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in nearly all organ systems. Gastrointestinal (GI) symptoms can be very debilitating and are among the most frequent and earliest of the disease. As the pathophysiology of these symptoms is poorly understood, we carried out a morphological and molecular characterization of the GI tract in α-Gal A knockout mice colon in order to reveal the underlying mechanisms.

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model

MASOTTI, MARTINA;DELPRETE, CECILIA;Dothel, Giovanni;Donadio, Vincenzo;Rimondini, Roberto;Liguori, Rocco;Caprini, Marco
2019

Abstract

Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity. This deficiency causes progressive accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in nearly all organ systems. Gastrointestinal (GI) symptoms can be very debilitating and are among the most frequent and earliest of the disease. As the pathophysiology of these symptoms is poorly understood, we carried out a morphological and molecular characterization of the GI tract in α-Gal A knockout mice colon in order to reveal the underlying mechanisms.
Masotti, Martina; Delprete, Cecilia; Dothel, Giovanni; Donadio, Vincenzo; Rimondini, Roberto; Politei, Juan Manuel; Liguori, Rocco; Caprini, Marco
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/661610
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