G. Vatine

Dissecting PHOX2B-Dependent Mechanisms in CCHS Across Experimental Models.

Congenital central hypoventilation syndrome (CCHS) is a rare autonomic nervous system disorder characterized by defective autonomic control of breathing resulting in life-threatening hypoventilation, particularly during sleep. CCHS is most commonly caused by pathogenic mutations in the transcription factor PHOX2B, broa...

Neuroblastoma-derived Extracellular Vesicles Disrupt the Integrity of Central Nervous System Barriers via Tight Junction Modulation

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures

The integrated analysis establishes the first cross-species model for GNB1E, suggests common neurological mechanisms and molecular pathways linked to GNB1E, and provides a framework for mechanistic and therapeutic studies.