Currently, there are about 7000 identified rare diseases, together affecting 10% of the
population. However, fewer than 6% of all rare diseases have an approved treatment option …

The term “pharmacological chaperone” was introduced 20 years ago. Since then the
approach with this type of drug has been proposed for several diseases, lysosomal storage …

Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native
folding and impair the trafficking of enzymes, leading to premature endoplasmic reticulum …

The protease encoded by the TMPRSS2 gene facilitates viral infections and has been
implicated in the pathogenesis of SARS-CoV-2. We analyzed the TMPRSS2 sequence and …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very
large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations …

Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive
monogenic disease worldwide. These mutations alter the synthesis, processing, function, or …

Protein misfolding has been linked to numerous inherited diseases. Loss‐and gain‐of‐
function mutations (common features of genetic diseases) may cause the destabilization of …

Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that
encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide …