Lysosomes are membrane-bound organelles with roles in processes involved in degrading
and recycling cellular waste, cellular signalling and energy metabolism. Defects in genes …

Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-
galactosidase A activity resulting from mutations in the GLA gene. Migalastat (Galafold™), a …

The pivotal role of lysosomes in cellular processes is increasingly appreciated. An
understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal …

Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …

Summary Treatment of Gaucher Disease (GD) is now beset with the abundance of
therapeutic options for an individual patient, making the choice of therapy complex for both …

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 …

Sphingolipidoses are defined as a group of rare hereditary diseases resulting from
mutations in the genes encoding lysosomal enzymes. This group of lysosomal storage …

Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine
biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants …

KEY POINTS Fabry disease is a multisystemic disease that can affect several organs,
resulting in cardiac, neurologic, ocular, cutaneous, and renal manifestations. Age at onset …

Due to the low number of patients, rare genetic diseases are a special challenge for the
development of therapies, especially for diseases that result from numerous, patient‐specific …