Mutations affecting a nuclear encoded metalloprotease cause of a new form of mitochondriopathy, highlighting the importance of this protease for mitochondrial function in humans.

An endoplasmic reticulum membrane protein regulates synaptic transmission, alcohol sensitivity, and gene expression by controlling the trafficking of a calcium-activated potassium channel.

Lysosomes are highly enriched in chloride, which is essential for their degradative function.

Impaired GABAergic and glutamatergic synaptic function and loss of interneurons in the amygdala, hippocampus, and cerebellum cause characteristic disease symptoms in a mouse model juvenile neuronal ceroid lipofuscinosis.

Direct and selective activation of TRPML2 promotes macrophage migration through release of CCL2.

Transcription factors KLF2 and ETV1 repress the transcriptional program of mitochondrial biogenesis, resulting in impaired mitochondrial function in lysosomal storage diseases.

NMDA receptor function is regulated by protein depalmitoylation during visual cortical maturation and is dysfunctional in infantile neuronal ceroid lipofuscinosis.

Experiments on flies suggest that a gain-of-function mechanism in a protein called CSPɑ contributes to the progressive brain disease CLN4.

Genetic analysis of a CLN4 Drosophila model suggests that the disease-causing alleles act as dominant gain of function mutations that cause CSPα oligomerization and impair secretory and prelysosomal trafficking.

Combined simulations and electrophysiological experiments show that the CLC channels and exchangers form physically distinct and evolutionarily conserved pathways through which Cl^- and H⁺ ions move when crossing biological membranes.