Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Focal segmental glomerulosclerosis, which is characterized by progressive glomerular
scarring, accounts for about 20% of cases of the nephrotic syndrome in children and 40% in …

Lysosomes are the primary catabolic compartments of eukaryotic cells. They degrade
extracellular material that has been internalized by endocytosis and intracellular …

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …

Although the causes of Parkinson's disease (PD) are thought to be primarily environmental,
recent studies suggest that a number of genes influence susceptibility. Using targeted case …

Podocytes are highly specialized cells of the kidney glomerulus that wrap around capillaries
and that neighbor cells of the Bowman's capsule. When it comes to glomerular filtration …

Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …

The trans-Golgi network (TGN) is an important cargo sorting station within the cell where
newly synthesized proteins are packaged into distinct transport carriers that are targeted to …

The lysosomal membrane was thought for a long time to primarily act as a physical barrier
separating the luminal acidic milieu from the cytoplasmic environment. Meanwhile, it has …