PMP22 and neurological disease

Peripheral Myelin Protein 22 (PMP22) is an N-glycosylated transmembrane protein that is mainly found in the nervous system. It was identified by multiple users in many docs spread across several different missions. Perturbations in this protein's homeostasis have been linked to Charcot Marie Tooth (CMT) disease. Many cases of CMT are actually caused by a PMP22 gene duplication which results in the over expression of the gene. NGLY1 functions to deglycosylate cytoplasmic proteins enabling them to be recycled. Can we learn about the mechanisms behind NGLY1's neurological symptoms from the literature on N-glycosylated proteins like PMP22? Help us explore the literature around an interesting clue that YOU found.

Top Contributors:
Group Statistics