The first known immortalized cell line with a naturally-occurring inactivating mutation in PRKAR1A, the regulatory subunit type 1A (R1alpha) of protein kinase A (PKA), which is associated with tumor formation.
PKA isozyme balance is critical for the control of cAMP signaling and related cell cycle and proliferation changes. Aberrant cAMP signaling has been linked to adrenocortical and other, mostly endocrine, tumors. Inactivating mutations in the PRKAR1A gene are a known cause of Carney Complex - an autosomal dominant multiple neoplasia syndrome associated with skin, heart, and other myxomas and a variety of endocrine tumors.
- Studies on multiple tumor formation associated with Carney Complex.
- Characterization of cAMP-mediated mechanisms of endocrine tumor formation.
- Studies of a large variety of cAMP-mediated processes in normal physiology and disease.
- First known immortalized cell line with a naturally-occurring inactivating mutation in the PRKAR1A gene.
Nesterova M, et al. [PMID 18056771]
- U.S. Patent Filed: U.S. Patent Application Number