ArticleBrain : a journal of neurology2009
PMP22 expression in dermal nerve myelin from patients with CMT1A.
Article in Brain : a journal of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 72 citations in OpenAlex.
- High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.JAMA neurology · 2013Trial
- Non-Pharmacological Management of Charcot-Marie-Tooth Disease: A Case Report.Muscles (Basel, Switzerland) · 2026Article
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- Safety, efficacy, and distal nerve Schwann cell biodistribution in mice and NHPs to support translation of AAV9 RNAi therapy for CMT1A.Molecular therapy. Nucleic acids · 2026Article
- Characterization of a humanized mouse model of Charcot-Marie-Tooth type 1A for the discovery of humanFrontiers in neurology · 2025Article
- Peripheral Nervous System (PNS) Myelin Diseases.Cold Spring Harbor perspectives in biology · 2024Review
- Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.Brain : a journal of neurology · 2023Article
- Candidate imaging biomarkers for PMP22-related inherited neuropathies.Annals of clinical and translational neurology · 2022Article
- Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.Molecular neurobiology · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Review
- Are we prepared for clinical trials in Charcot-Marie-Tooth disease?Brain research · 2020Review
- Regulating PMP22 expression as a dosage sensitive neuropathy gene.Brain research · 2020Review
- Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.Brain communications · 2020Article
- Charcot-Marie-Tooth: From Molecules to Therapy.International journal of molecular sciences · 2019Review
- Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder.Nature biomedical engineering · 2019Article
- Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.Annals of neurology · 2019Article
- Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.Journal of neurology, neurosurgery, and psychiatry · 2019Review
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Molecular genetics & genomic medicine · 2018Review
- Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.The American journal of pathology · 2018Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein-22 (PMP22) gene. Increased levels of PMP22 in compact myelin of peripheral nerves have been demonstrated and presumed to cause the phenotype of CMT1A. The objective of the present study was to determine whether an extra copy of the PMP22 gene in CMT1A disrupts the normally coordinated expression of PMP22 protein in peripheral nerve myelin and to evaluate PMP22 over-expression in patients with CMT1A and determine whether levels of PMP22 are molecular markers of disease severity. PMP22 expression was measured by taking skin biopsies from patients with CMT1A (n = 20) and both healthy controls (n = 7) and patients with Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (n = 6), in which patients have only a single copy of PMP22. Immunological electron microscopy was performed on the skin biopsies to quantify PMP22 expression in compact myelin. Similar biopsies were analysed by real time PCR to measure PMP22 mRNA levels. Results were also correlated with impairment in CMT1A, as measured by the validated CMT Neuropathy Score. Most, but not all patients with CMT1A, had elevated PMP22 levels in myelin compared with the controls. The levels of PMP22 in CMT1A were highly variable, but not in HNPP or the controls. However, there was no correlation between neurological disabilities and the level of over-expression of PMP22 protein or mRNA in patients with CMT1A. The extra copy of PMP22 in CMT1A results in disruption of the tightly regulated expression of PMP22. Thus, variability of PMP22 levels, rather than absolute level of PMP22, may play an important role in the pathogenesis of CMT1A.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.