Topic: protein instability

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