https://www.biorxiv.org/content/10.1101/2022.02.18.481076v1.full
Preprints
Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H [preprint]
https://www.biorxiv.org/content/10.1101/2022.01.20.477077v1
A mutation associated with Charcot-Marie-Tooth disease enhances the formation of stable dynamin 2 complexes in cells [preprint]
https://www.biorxiv.org/content/10.1101/2021.12.13.472395v1.full
Demyelination induces transcriptional reprograming in proprioceptive and Aβ rapidly adapting low-threshold-mechanoreceptor neurons [preprint]
https://www.biorxiv.org/content/10.1101/2021.11.23.469748v1.full
Inversely proportional myelin growth due to altered Pmp22 gene dosage identifies PI3K/Akt/mTOR signaling as a novel therapeutic target in HNPP [preprint]
https://www.biorxiv.org/content/10.1101/2021.11.08.467756v1.full
In Pmp22tg CMT1A mice, we uncovered that the differentiation defect of Schwann cells is independent from PI3K/Akt/mTOR activity, rendering the pathway insufficient as a therapy target on its own. Thus, while CMT1A pathogenesis is governed by dys-differentiation uncoupled from PI3K/Akt/mTOR signaling, targeting the pathway provides novel proof-of-principle for a therapeutic approach to HNPP.
Treatment with IFB-088 improves neuropathy in CMT1A and CMT1B mice [preprint]
Treatment with IFB-088 improves neuropathy in CMT1A and CMT1B mice
Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy [preprint]
https://www.biorxiv.org/content/10.1101/2021.07.28.454213v1
Long term AAV2/9-mediated silencing of PMP22 prevents CMT1A disease in rats and validates skin biomarkers as treatment outcome measure [Preprint]
https://www.biorxiv.org/content/10.1101/2020.01.29.924605v1.full
Long term AAV2/9-mediated silencing of PMP22 prevents CMT1A disease in rats and validates skin biomarkers as treatment outcome measure
Benoit Gautier, Helene Hajjar, Sylvia Soares, Jade Berthelot, Marie Deck, Scarlette Abbou, Graham Campbell, Claire-Maelle Fovet, Vlad Schütza, Antoine Jouvenel, Cyril Rivat, Michel Zerah, Virginie François Le Ravazet, Caroline Le Guiner, Patrick Aubourg, View ORCID ProfileRobert Fledrich, View ORCID ProfileNicolas Tricaud
doi: https://doi.org/10.1101/2020.01.29.924605
