CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

The protonation state of soluble and membrane-associated macromolecules dictates their
charge, conformation, and functional activity. In addition, protons (H+ or their equivalents) …

Protons dictate the charge and structure of macromolecules and are used as energy
currency by eukaryotic cells. The unique function of individual organelles therefore depends …

Lysosomes, the terminal organelles on the endocytic pathway, digest macromolecules and
make their components available to the cell as nutrients. Hydrolytic enzymes specific to a …

Na+/H+ exchangers play pivotal roles in the control of cell and tissue pH by mediating the
electroneutral exchange of Na+ and H+ across cellular membranes. They belong to an …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

The concentration of chloride ions in the cytoplasm and subcellular organelles of living cells
spans a wide range (5–130 mM), and is tightly regulated by intracellular chloride channels …

Intracellular organelles change their size during trafficking and maturation. This requires the
transport of ions and water across their membranes. Macropinocytosis, a ubiquitous form of …

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by
accumulation of autofluorescent storage material in neural tissues and neurodegeneration …