Associated Papers
Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.
Li H et al.
Neurobiology of Disease, 2026
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS et al.
Brain : a Journal of Neurology, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.
Ward KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
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
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
CMT1A current gene therapy approaches and promising biomarkers.
Stavrou M et al.
Neural Regeneration Research, 2023
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation.
Jaffry M et al.
Neurogenetics, 2022
Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
Di Tomaso MV et al.
Biomolecules, 2022
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
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
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
Liu X et al.
Frontiers in Neurology, 2020
Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.
Vanoye CG et al.
The Journal of Biological Chemistry, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.
Li LX et al.
Chinese Medical Journal, 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
Gp78 E3 Ubiquitin Ligase: Essential Functions and Contributions in Proteostasis.
Joshi V et al.
Frontiers in Cellular Neuroscience, 2017
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.
Scurry AN et al.
Journal of Neuropathology and Experimental Neurology, 2016
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP et al.
Journal of the American Chemical Society, 2015
The safety dance: biophysics of membrane protein folding and misfolding in a cellular context.
Schlebach JP et al.
Quarterly Reviews of Biophysics, 2015
Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.
Hara T et al.
Scientific Reports, 2014
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.
Bouhy D et al.
Annals of Neurology, 2013
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse.
Madrid RE et al.
Neuromuscular Disorders : Nmd, 2013
Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
Numata Y et al.
The Journal of Biological Chemistry, 2013
Dominant Charcot-Marie-Tooth syndrome and cognate disorders.
Pareyson D et al.
Handbook of Clinical Neurology, 2013
Membrane protein misassembly in disease.
Ng DP et al.
Biochimica Et Biophysica Acta, 2012
Two families with novel PMP22 point mutations: genotype-phenotype correlation.
Pisciotta C et al.
Journal of the Peripheral Nervous System : Jpns, 2009
Molecular mechanisms of inherited demyelinating neuropathies.
Scherer SS et al.
Glia, 2008
The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized.
Myers JK et al.
Biochemistry, 2008
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
Khajavi M et al.
American Journal of Human Genetics, 2007
Animal models of inherited neuropathies.
Meyer Zu Hörste G et al.
Current Opinion in Neurology, 2006
Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
Berger P et al.
Glia, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
Kochański A
Journal of Applied Genetics, 2006
Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: implications for neuropathy severity.
Johnson JS et al.
Journal of Neuroscience Research, 2005
[The role of the immune system in hereditary demyelinating neuropathies].
Mäurer M et al.
Der Nervenarzt, 2005
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.
Devaux JJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.
Fontanini A et al.
The Journal of Biological Chemistry, 2005
The causes of Charcot-Marie-Tooth disease.
Young P et al.
Cellular and Molecular Life Sciences : Cmls, 2003