Associated Papers
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 Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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
25243937 (PubMed )
Supplement: bi500809t_si_001.pdf
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
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.
Shames I et al.
Journal of Neuropathology and Experimental Neurology, 2003
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
Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.
Marinko JT et al.
The Journal of Biological Chemistry, 0
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