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

Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by
deficiencies in normal lysosomal function and by intralysosomal accumulation of …

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of
lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter …

Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders,
usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal …

Better understanding of disease pathophysiology, improved supportive care and availability
of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have …

Neurodegenerative diseases are caused by the progressive loss of function or structure of
nerve cells in the central nervous system. The most common neurodegenerative diseases …

Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five
autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) …

In the last years, much progress has been achieved in the field of lysosomal storage
disorders. In the past, no specific treatment was available for the affected patients; …

Genistein (5, 7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one) has been
previously proposed as a potential drug for use in substrate reduction therapy for …

Background Neurodegenerative metabolic disorders such as mucopolysaccharidosis IIIB
(MPSIIIB or Sanfilippo disease) accumulate undegraded substrates in the brain and are …