Associated Papers
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.
Palu E et al.
Neurogenetics, 2023
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
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
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
Kabzińska D et al.
Journal of Applied Genetics, 2010
Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.
Liu N et al.
Neurobiology of Disease, 2004
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
PMP22 related congenital hypomyelination neuropathy.
Fabrizi GM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Kovach MJ et al.
American Journal of Human Genetics, 1999
Many facets of the peripheral myelin protein PMP22 in myelination and disease.
Naef R et al.
Microscopy Research and Technique, 1998
Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
D'Urso D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
Valentijn LJ et al.
Human Mutation, 1995