Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Chen L et al.
Journal of Neurology, 2024
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
Pashkova N et al.
Iscience, 2024
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.
Pashkova N et al.
Biorxiv : the Preprint Server for Biology, 2024
Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.
Stefanski KM et al.
Biochemical Society Transactions, 2024
Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.
Fantin SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22.
Marinko JT et al.
The Journal of Biological Chemistry, 2020
Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains.
Marinko JT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 2020
Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Chen B et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP et al.
Journal of the American Chemical Society, 2015
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 2014
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Zéphir H et al.
Neuromuscular Disorders : Nmd, 2005
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Kochański A et al.
Acta Biochimica Polonica, 2004
HNPP due to a novel missense mutation of the PMP22 gene.
Nodera H et al.
Neurology, 2003
Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.
Marinko JT et al.
The Journal of Biological Chemistry, 0