Multiple complex intracellular cascades contributing to Hunter syndrome (
mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the …

Gaucher disease (GD) is an autosomal recessive disorder caused by bi-allelic GBA1
mutations that reduce the activity of the lysosomal enzyme β-glucocerebrosidase (GCase) …

Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes
the lysosomal enzyme β-glucocerebrosidase. Despite the existence of a variety of specific …

Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the
GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild …

The Wnt signalling pathway is a fundamental cell-to-cell communication system that plays a
pivotal role in orchestrating diverse developmental processes across metazoans. There are …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by
mutations in the acid β-glucosidase encoding gene (GBA1), resulting in deficient activity of …

Il mio interesse scientifico è da sempre rivolto allo studio delle malattie muscolari. Dopo il
conseguimento della Laurea in Medicina e Chirurgia ho iniziato a frequentare il Laboratorio …