Associated Papers
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 Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Wang DS et al.
Annals of Clinical and Translational Neurology, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
Functional analysis for peripheral myelin protein PASII/PMP22: is it a member of claudin superfamily?
Takeda Y et al.
Neurochemical Research, 2001
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.
Lewis RA et al.
Muscle & Nerve, 2000
Association studies of Parkinson's disease and parkin polymorphisms.
Klein C et al.
Annals of Neurology, 2000
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
Common themes in peripheral neuropathy disease genes.
Snipes GJ et al.
Cell Biology International, 1998
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
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
Tyson J et al.
Brain : a Journal of Neurology, 1997
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Patel PI et al.
Trends in Genetics : Tig, 1994
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Roa BB et al.
Nature Genetics, 1993