Topic: ATP1A1

Gangliosides, as major lipid raft (LR) constituents, provide an optimal milieu for the function and activity of various membrane proteins. One example is the Na+,K+-ATPase (NKA) vital for cell ion homeostasis. Aiming to investigate effects of gangliosides on NKA gene and protein expression, enzyme activity, and submembrane localization, we analyzed cortices and cerebella derived from a mouse model with impaired synthesis of gangliosides (St8sia1 null) in comparison with wild type (WT) mice. Gene expression of six NKA isoforms was determined by qRT-PCR, while NKA protein expression was analyzed

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