Beschreibung:
Myelinating Schwann cells wrap around peripheral axons and allow fast neural transmission. Peripheral myelin protein of 22 kDa (PMP22) is a transmembrane protein strongly expressed in Schwann cells. Alterations in PMP22 expression lead to motor and sensory peripheral neuropathies Charcot-Marie-Tooth disease 1A (CMT1A, PMP22 overexpression) and hereditary neuropathy with liability to pressure palsies (HNPP, PMP22 deficiency), while the molecular role of PMP22 is largely unknown. PMP22 is shuttled through the secretory pathway via the endoplasmic reticulum (ER) and the Golgi apparatus. Unalte...