Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Lysosomal storage disorders (LSDs)—designated as' orphan'diseases—are inborn errors of
metabolism caused by defects in genes that encode proteins involved in various aspects of …

Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of
α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as …

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 …

Abstract Models validation in QSAR, pharmacophore, docking and others can ensure the
accuracy and reliability of future predictions in design and selection of molecules with …

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 …

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

Whenever a protein fails to fold into its native structure, a profound detrimental effect is likely
to occur, and a disease is often developed. Protein conformational disorders arise when …

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

This study provides the first example of a strategy to design a practical ligand toward
lysosomal acid α-glucosidase (GAA) focusing on N-alkyl derivatives of 1, 4-dideoxy-1, 4 …