Search Results - "Rozenfeld, Paula Adriana"
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Pathogenesis of Fabry nephropathy: The pathways leading to fibrosis
Published in Molecular genetics and metabolism (01-02-2020)“…Kidney is one of the main target organs in Fabry disease, a lysosomal X-linked genetic disorder. Renal involvement is characterized by proteinuria and…”
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Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease
Published in International journal of molecular sciences (13-01-2017)“…Gaucher disease (GD) is caused by mutations in the glucosylceramidase β ( ) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This…”
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Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology
Published in International journal of molecular sciences (01-07-2023)“…Gaucher disease (GD) is caused by biallelic pathogenic variants in the acid β-glucosidase gene ( ), leading to a deficiency in the β-glucocerebrosidase (GCase)…”
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Pathogenic pathways of renal damage in Fabry nephropathy: interplay between immune cell infiltration, apoptosis and fibrosis
Published in Journal of nephrology (01-04-2024)“…Background Fabry nephropathy is a consequence of the deposition of globotriaosylceramide, caused by deficient GLA enzyme activity in all types of kidney cells…”
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Polyphenoloxidase activity from strawberry fruit (Fragaria ananassa, Duch., cv Selva): characterisation and partial purification
Published in Journal of the science of food and agriculture (01-07-2000)“…In this work, polyphenoloxidase (PPO) from Selva strawberry fruit (Fragaria × ananassa, Duch) was extracted, characterised and partially purified. The activity…”
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