Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited
metabolic diseases which, in the great majority of cases, result from the defective function of …

GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1)
deficiency, are very rare lysosomal storage diseases with an incidence of about 1: 100,000 …

Metachromatic leukodystrophy is a neurodegenerative disorder characterized by
progressive demyelination. The disease is caused by variants in the ARSA gene, which …

Costello syndrome is a multiple congenital anomaly and mental retardation syndrome
characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We …

Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes
due to mutations in the GBA1 gene encoding the lysosomal hydrolase β-glucocerebrosidase …

Abstract Background In Gaucher disease (GD), resulting from mutations in the GBA gene,
mutant β-glucocerebrosidase (GCase) molecules are recognized as misfolded in the …

The characterization of the underlying GALC gene lesions was performed in 30 unrelated
patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused by the …

Processed pseudogenes are non-functional copies of normal genes that arise by a process
of mRNA retrotransposition. The human genome contains thousands of pseudogenes; …

A large number of mutations in the glucocerebrosidase gene (GBA gene), encoding the
lysosomal acid hydrolase glucocerebrosidase (GCase), lead to Gaucher disease (GD). The …

We investigated the use of pharmacological chaperones for the therapy of Pompe disease, a
metabolic myopathy due to mutations of the gene encoding the lysosomal hydrolase α …