[HTML][HTML] P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy
L Nobbio, L Sturla, F Fiorese, C Usai, G Basile… - Journal of Biological …, 2009 - ASBMB
Charcot-Marie-Tooth (CMT) is the most frequent inherited neuromuscular disorder, affecting
1 person in 2500. CMT1A, the most common form of CMT, is usually caused by a duplication
of chromosome 17p11. 2, containing the PMP22 (peripheral myelin protein-22) gene;
overexpression of PMP22 in Schwann cells (SC) is believed to cause demyelination,
although the underlying pathogenetic mechanisms remain unclear. Here we report an
abnormally high basal concentration of intracellular calcium ([Ca 2+] i) in SC from CMT1A …
1 person in 2500. CMT1A, the most common form of CMT, is usually caused by a duplication
of chromosome 17p11. 2, containing the PMP22 (peripheral myelin protein-22) gene;
overexpression of PMP22 in Schwann cells (SC) is believed to cause demyelination,
although the underlying pathogenetic mechanisms remain unclear. Here we report an
abnormally high basal concentration of intracellular calcium ([Ca 2+] i) in SC from CMT1A …