Browsing Tag

mechanisms of disease

Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney [RESEARCH ARTICLE]

ABSTRACT L-2-hydroxyglutarate (L-2HG) is an oncometabolite found elevated in renal tumors. However, this molecule might have physiological roles that extend beyond its association with cancer, as L-2HG levels are elevated in response to…

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse…

ABSTRACT The mariner (myo7aa–/–) mutant is a zebrafish model for Usher syndrome type 1 (USH1). To further characterize hair cell synaptic elements in myo7aa–/– mutants, we focused on the ribbon synapse and evaluated ultrastructure, number…

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and…

ABSTRACT Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of…