Prohibitin 1 (PHB1) and prohibitin 2 (PHB2) are proteins that are ubiquitously expressed,
and are present in the nucleus, cytosol, and mitochondria. Depending on the cellular …

Mitochondrial dysfunction is emerging as an important contributory factor to the
pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial …

Multiple sclerosis (MS) is a complex inflammatory and neurodegenerative chronic disease
that involves the immune and central nervous systems (CNS). The pathogenesis involves …

Tunneling nanotubes (TNTs) are cellular extensions enabling cytosol-to-cytosol intercellular
interaction between numerous cell types including macrophages. Previous studies of …

Nephropathic cystinosis is a severe, monogenic systemic disorder that presents early in life
and leads to progressive organ damage, particularly affecting the kidneys. It is caused by …

Epithelial cells exfoliated in human urine can include cells anywhere from the urinary tract
and kidneys; however, podocytes and proximal tubular epithelial cells (PTECs) are by far the …

Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel
energy-demanding water and solute reabsorption processes along the nephron. Moreover …

Diagnosis and cure for rare diseases represent a great challenge for the scientific
community who often comes up against the complexity and heterogeneity of clinical picture …

Background Mutations in the gene that encodes the lysosomal cystine transporter cystinosin
cause the lysosomal storage disease cystinosis. Defective cystine transport leads to …

The activation of several inflammatory pathways has recently been documented in patients
and different cellular and animal models of nephropathic cystinosis. Upregulated …