Patrice Quintana

Oncogenic MAPK pathway activation disrupts Schwann cell fate commitment, inducing congenital and progressive neuropathy in mice

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.

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H

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.

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

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.

Physiology and function of PNS axons rely on glycolic metabolism in myelinating Schwann cells

This study shows that lactate production via aerobic glycolysis in myelinating Schwann cells is essential for maintaining peripheral nerve axon physiology and function.