Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …

In neurons, the loading of neurotransmitters into synaptic vesicles uses energy from proton-
pumping vesicular-or vacuolar-type adenosine triphosphatases (V-ATPases). These …

Vesicular-or vacuolar-type adenosine triphosphatases (V-ATPases) are ATP-driven proton
pumps comprised of a cytoplasmic V 1 complex for ATP hydrolysis and a membrane …

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …

Non-alcoholic fatty liver disease (NAFLD) or metabolic (dysfunction) associated liver
disease (MAFLD), is, with a global prevalence of 25%, the most common liver disorder …

Background Lysosomes digest extracellular material from the endocytic pathway and
intracellular material from the autophagic pathway. This process is performed by the resident …

Background and Aims Hepatocellular carcinoma (HCC) is associated with high malignancy
rates. Recently, a known deacetylase silent information regulator 1 (SIRT1) was discovered …

Congenital disorders of glycosylation (CDG) are one group among the disorders of
glycosylation. The latter comprise defects associated with hypoglycosylation but also defects …

Abstract The vacuolar H+-ATPases (V-ATPases) are essential, ATP-dependent proton
pumps present in a variety of eukaryotic cellular membranes. Intracellularly, V-ATPase …