Valérie Delague

This study shows that overexpressing wild-type MFN2 via gene therapy improves CMT2A in mice, restoring ER-mitochondria contacts and motor function even after symptom onset.

This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.

This study shows that oncogenic MAPK pathway activation in Schwann cells causes congenital and progressive neuropathy in mice, linking RASopathy mutations to peripheral nerve dysfunction.

The paper investigates VRK1-related motor neuropathies using hiPSC-MNs and bulk mRNA-Seq, identifying altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation as key pathomechanisms.

This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.

The paper investigates hiPSC-derived motor neurons with VRK1 mutations, finding altered action potential waveforms and shorter axonal initial segments, suggesting a link to motor neuron disease.