ArticleAnnals of neurology2019
Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.
Article in Annals of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A.iScience · 2026Article
- Schwann Cell Expression Pattern in Human Melanomas: In Silico and Immunohistochemical Analyses.International journal of molecular sciences · 2026Article
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Deciphering the molecular basis of skin color variation through transcriptomics and machine learning.Scientific reports · 2025Article
- Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1A.Biology · 2025Article
- Characterization of a humanized mouse model of Charcot-Marie-Tooth type 1A for the discovery of humanFrontiers in neurology · 2025Article
- Review
- Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.Brain : a journal of neurology · 2023Article
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain : a journal of neurology · 2023Article
- Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.Neural regeneration research · 2023Review
- CMT1A current gene therapy approaches and promising biomarkers.Neural regeneration research · 2023Review
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Annals of neurology · 2023Review
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.Brain : a journal of neurology · 2022Article
- A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.The Journal of clinical investigation · 2022Article
- Review
- MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.Neurology · 2021Article
- Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A.Communications biology · 2021Article
- Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.Human molecular genetics · 2020Article
- Are we prepared for clinical trials in Charcot-Marie-Tooth disease?Brain research · 2020Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveCharcot-Marie-Tooth (CMT) disease is most commonly caused by duplication of a chromosomal segment surrounding Peripheral Myelin Protein 22, or PMP22 gene, which is classified as CMT1A. Several candidate therapies reduce Pmp22 mRNA levels in CMT1A rodent models, but development of biomarkers for clinical trials in CMT1A is a challenge given its slow progression and difficulty in obtaining nerve samples. Quantitative PCR measurements of PMP22 mRNA in dermal nerves were performed using skin biopsies in human clinical trials for CMT1A, but this approach did not show increased PMP22 mRNA in CMT1A patients compared to controls. One complicating factor is the variable amounts of Schwann cells (SCs) in skin. The objective of the study was to develop a novel method for precise evaluation of PMP22 levels in skin biopsies that can discriminate CMT1A patients from controls.
methodsWe have developed methods to normalize PMP22 transcript levels to SC-specific genes that are not altered by CMT1A status. Several CMT1A-associated genes were assembled into a custom Nanostring panel to enable precise transcript measurements that can be normalized to variable SC content.
resultsThe digital expression data from Nanostring analysis showed reproducible elevation of PMP22 levels in CMT1A versus control skin biopsies, particularly after normalization to SC-specific genes.
interpretationThis platform should be useful in clinical trials for CMT1A as a biomarker of target engagement that can be used to optimize dosing, and the same normalization framework is applicable to other types of CMT. ANN NEUROL 2019;85:887-898.
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