Gaucher disease (GD) is an autosomic recessive genetic disorder, known as the most common lysosomal storage disease. The causative genetic alteration involves mutation of the GBA gene, encoding for the β-glucocerebrosidase enzyme, whose loss-of-function causes the accumulation of glucosylceramide and glucosylsphingosine especially in cells primarily of the reticulo-endothelial system. More than 90% of patients show a systemic disorder and only fewer has an impairment of the central nervous system. The aggressiveness of the disorder is not tightly correlated with the genotype indeed there are many cases reported in literature of patients carrying the same mutation but different pathological symptoms. Typical features of the disease are the unrestrained activation of inflammatory mechanisms and neuronal cell death in neuronopathic conditions, whose molecular pathways are still not fully understood. Recent evidences show that upregulation of the Hippo pathway is associated with neuroinflammation and neuronal cell death, while the necroptosis pathway was found involved in a murine model of Gaucher Disease.

Silvia Strocchi, D.M. (2019). HIPPO AND NECROPTOSIS PATHWAYS AS POSSIBLE PLAYERS IN THE NEURONOPATHIC GAUCHER.

HIPPO AND NECROPTOSIS PATHWAYS AS POSSIBLE PLAYERS IN THE NEURONOPATHIC GAUCHER

Silvia Strocchi
;
Daria Messelodi;Annalisa Astolfi;Laura Poppi;Salvatore N. Bertuccio;Davide Leardini;Alberto Taddia;Annalisa Pession;Andrea Pession;Daniela Grifoni
2019

Abstract

Gaucher disease (GD) is an autosomic recessive genetic disorder, known as the most common lysosomal storage disease. The causative genetic alteration involves mutation of the GBA gene, encoding for the β-glucocerebrosidase enzyme, whose loss-of-function causes the accumulation of glucosylceramide and glucosylsphingosine especially in cells primarily of the reticulo-endothelial system. More than 90% of patients show a systemic disorder and only fewer has an impairment of the central nervous system. The aggressiveness of the disorder is not tightly correlated with the genotype indeed there are many cases reported in literature of patients carrying the same mutation but different pathological symptoms. Typical features of the disease are the unrestrained activation of inflammatory mechanisms and neuronal cell death in neuronopathic conditions, whose molecular pathways are still not fully understood. Recent evidences show that upregulation of the Hippo pathway is associated with neuroinflammation and neuronal cell death, while the necroptosis pathway was found involved in a murine model of Gaucher Disease.
2019
2nd BRAINSTORMING RESEARCH ASSEMBLY FOR YOUNG NEUROSCIENTISTS
Silvia Strocchi, D.M. (2019). HIPPO AND NECROPTOSIS PATHWAYS AS POSSIBLE PLAYERS IN THE NEURONOPATHIC GAUCHER.
Silvia Strocchi, Daria Messelodi, Annalisa Astolfi, Laura Poppi, Salvatore N. Bertuccio, Davide Leardini, Alberto Taddia, Salvatore Serravalle, Jessic...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/706252
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