Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …

The recent advancements in the knowledge of lysosomal biology and function have
translated into an improved understanding of the pathophysiology of …

The superiority of in vitro 3D cultures over conventional 2D cell cultures is well recognized
by the scientific community for its relevance in mimicking the native tissue architecture and …

Heparan sulfate proteoglycans (HSPGs) are complex carbohydrate-modified proteins
ubiquitously expressed on cell surfaces, extracellular matrix and basement membrane of …

Wnt signaling affects fundamental development pathways and, if aberrantly activated,
promotes the development of cancers. Wnt signaling is modulated by different factors, but …

Hedgehog, a developmental morphogen, and its downstream signalling have recently been
associated with metabolic control. Sonic hedgehog signalling (Shh) is a significant pathway …

A morphogen is a signaling molecule that induces specific cellular responses depending on
its local concentration. The concept of morphogenic gradients has been a central paradigm …

There is growing evidence that the complex clinical manifestations of lysosomal storage
diseases (LSDs) are not fully explained by the engorgement of the endosomal-autophagic …

Multiple complex intracellular cascades contributing to Hunter syndrome (
mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the …