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

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 1:100,000–1…

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

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

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

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-…