In this study, we investigated the mechanisms of sterol transport from the plasma membrane
(PM) to the endoplasmic reticulum (ER) and lipid droplets (LDs) in HeLa cells. By …

ER–TGN contact sites (ERTGoCS) have been visualized by electron microscopy, but their
location in the crowded perinuclear area has hampered their analysis via optical microscopy …

Phosphatidylinositol-4-phosphate (PI4P), a phosphoinositide with key roles in the Golgi
complex, is made by Golgi-associated phosphatidylinositol-4 kinases and consumed by the 4-…

Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in
CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine …

Next to the protein-based machineries composed of small G-proteins, coat complexes, SNAREs
and tethering factors, the lipid-based machineries are emerging as important players in …

Highlights • ER–Golgi contact sites are sites of close apposition between the two organelles.
• In mammals the contact sites occur between the ER and the trans-Golgi (TG). • The ER–…

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 associated …

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

Recessive mutations in the CTNS gene encoding the lysosomal transporter cystinosin
cause cystinosis, a lysosomal storage disease leading to kidney failure and multisystem …

Cystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in
the CTNS gene leading to lysosomal cystine accumulation. The disease primarily affects the …