Topic: membrane trafficking

Charcot-Marie-Tooth disease (CMT) is a heterogenous group of hereditary peripheral nervous system disorder, with approximately twenty percent of the patients remaining genetically undiagnosed. Mutations in the sodium-potassium-ATPase alpha-1 polypeptide encoding ATP1A1 gene have been linked to CMT, however, the pathomechanisms underlying ATP1A1-related CMT have yet to be precisely elucidated. Despite we have identified a rare ATP1A1 c.620C>A; p.(Ser207Tyr) variant in a patient with late-onset axonal CMT, the functional implication of this S207Y protein remained unclear. This rare S207Y prot

KCC2 is a neuronal-specific chloride extruder that acts to maintain a low intraneuronal chloride concentration, which is critical for fast synaptic inhibition through the GABAA receptor channels. In both humans and mice, KCC2 encoding gene is translated into two isoforms (KCC2a and KCC2b) that differ in their N-terminal domain. While KCC2b is strongly upregulated after birth, KCC2a remains very weakly expressed even in mature neurons. Despite its low expression, KCC2a has been shown to be essential for respiratory behaviour at birth, but the specific function of KCC2a in mature neurons has not