Article
Resistance to the lipolytic action of epinephrine: a new feature of protein Gs deficiency.
The Journal of clinical endocrinology and metabolism - 1 Nov 1999
Carel J C, Le Stunff C, Condamine L, Mallet E, Chaussain J L, Adnot P, Garabédian M, Bougnères P
Abstract excerpt
Deficiency of protein Gs (Gs; OMIM no.103580), the stimulatory regulator of adenylyl cyclase, is associated with resistance to PTH and other hormones, sc calcifications, short stature, and skeletal defects (Albright's hereditary osteodystrophy). It is caused by heterozygous loss of function mutations in GNAS 1, the gene encoding the alpha-subunit of Gs. Obesity is a classical feature of patients with Gs...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.