Autophagy and endocytosis deliver unneeded cellular materials to lysosomes for
degradation. Beyond processing cellular waste, lysosomes release metabolites and ions …

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

Abstract The Vacuolar ATPase (V-ATPase) is a proton pump responsible for controlling the
intracellular and extracellular pH of cells. The structure of V-ATPase has been highly …

Proteoglycans (PGs) are glycosylated proteins of biological importance at cell surfaces, in
the extracellular matrix, and in the circulation. PGs are produced and modified by …

The eukaryotic V-type adenosine triphosphatase (V-ATPase) is a multi-subunit membrane
protein complex that is evolutionarily related to F-type adenosine triphosphate (ATP) …

Congenital (genetic) disorders of glycosylation (CDG) are a rapidly growing disease family,
with some 45 members reported since its first clinical description in 1980. Most of these are …

Defects in the human protein TMEM165 are known to cause a subtype of Congenital
Disorders of Glycosylation. Transmembrane protein 165 (TMEM165) belongs to an …

Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular
trafficking of membrane-enclosed compartments, including secretory granules, endosomes …

Copper is vital for numerous cellular functions affecting all tissues and organ systems in the
body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper …

Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly
heterogeneous clinical spectrum is not explained by our current understanding of the …