Associated Papers
Mutant PLP1 impairs COPII vesicle formation via ER calcium depletion in Pelizaeus-Merzbacher disease.
Li H et al.
Neurobiology of Disease, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 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
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves.
Defilippi V et al.
Journal of Neurochemistry, 2024
Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.
Stefanski KM et al.
Biochemical Society Transactions, 2024
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS et al.
Cold Spring Harbor Perspectives in Biology, 2024
Spatial selectivity of ATase inhibition in mouse models of Charcot-Marie-Tooth disease.
Fernandez-Fuente G et al.
Brain Communications, 2024
In Vivo Ultrafast Doppler Imaging Combined with Confocal Microscopy and Behavioral Approaches to Gain Insight into the Central Expression of Peripheral Neuropathy in Trembler-J Mice.
Martínez Barreiro M et al.
Biology, 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Reply to Record et al. "The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved".
Stefanski KM et al.
The Journal of Biological Chemistry, 2023
The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved.
Record CJ et al.
The Journal of Biological Chemistry, 2023
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C et al.
Neuromuscular Disorders : Nmd, 2023
The Current State of Charcot-Marie-Tooth Disease Treatment.
Okamoto Y et al.
Genes, 2023
CMT1A current gene therapy approaches and promising biomarkers.
Stavrou M et al.
Neural Regeneration Research, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
Stefanski KM et al.
The Journal of Biological Chemistry, 2023
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY et al.
Genes, 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
Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.
Pisciotta C et al.
Brain Sciences, 2021
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Therapeutic Development in Charcot Marie Tooth Type 1 Disease.
Miniou P et al.
International Journal of Molecular Sciences, 2021
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M et al.
International Journal of Molecular Sciences, 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
Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.
Damián JP et al.
Biomolecules, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Proteins Interacting with STIM1 and Store-Operated Ca2+ Entry.
Wang WA et al.
Progress in Molecular and Subcellular Biology, 2021
Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.
Zhou Y et al.
Glia, 2020
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
Structural dynamics behind variants in pyrazinamidase and pyrazinamide resistance.
Khan MT et al.
Journal of Biomolecular Structure & Dynamics, 2020
Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy.
Thenmozhi R et al.
Experimental Neurobiology, 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
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD et al.
Biochemistry, 2020
Gene therapy to promote regeneration in Charcot-Marie-Tooth disease.
Sahenk Z et al.
Brain Research, 2020
Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
Wu R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
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
HSP90 Inhibitor, NVP-AUY922, Improves Myelination in Vitro and Supports the Maintenance of Myelinated Axons in Neuropathic Mice.
Chittoor-Vinod VG et al.
Acs Chemical Neuroscience, 2019
miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22.
Lee JS et al.
Experimental Neurobiology, 2019
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Efficacy of exogenous pyruvate in TremblerJ mouse model of Charcot-Marie-Tooth neuropathy.
Sahenk Z et al.
Brain and Behavior, 2018
Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A.
Park S et al.
International Journal of Molecular Sciences, 2018