Marie-Laure Raffin-Sanson

Learn More
We have previously described the only reported case of human proprotein convertase 1 (PC1) deficiency, in a female (Subject A) with obesity, hypogonadism, hypoadrenalism, and reactive hypoglycemia. We now report the second case of human PC1 deficiency (Subject B), also due to compound heterozygosity for novel missense and nonsense mutations. While both(More)
The proprotein convertase PC2 is primarily expressed in neuroendocrine cells where it mediates the proteolytic maturation of prohormones and proneuropeptides. We have identified in the upstream sequence of its gene a conserved domain partially homologous to the repressor element RE1/NRSE found in several genes for neuronal proteins. RE1/NRSE binds the(More)
  • 1