The majority of ACTH receptor (MC2R) mutations found in Familial Glucocorticoid Deficiency type 1 lead to defective trafficking of the receptor to the cell surface

Lignende værker

• Distinct MRAP domains are required for MC2R interaction and promotion of receptor trafficking
  af: Webb, Tom R., et al.
  Udgivet: (2009)
• Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
  af: Chan, Li F, et al.
  Udgivet: (2009)
• Bioluminescence Resonance Energy Transfer Reveals the Adrenocorticotropin (ACTH)-Induced Conformational Change of the Activated ACTH Receptor Complex in Living Cells
  af: Cooray, Sadani N., et al.
  Udgivet: (2011)
• Rapid Glucocorticoid Feedback Inhibition of ACTH Secretion Involves Ligand-Dependent Membrane Association of Glucocorticoid Receptors
  af: Deng, Qiong, et al.
  Udgivet: (2015)
• Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
  af: Lin, Lin, et al.
  Udgivet: (2007)