protein kinase A catalytic subunit
ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
Paris, France. In Eur J Endocrinol, Feb 2016
Exome sequencing identified new major drivers in all tumor types, including KCNJ5, ATP1A1, ATP2B3 and CACNA1D mutations in aldosterone producing adenomas (APA), PRKACA mutations in cortisol producing adenomas (CPA), ARMC5 mutations in primary bilateral macronodular adrenocortical hyperplasia (PBMAH), and ZNRF3 mutations in adrenocortical carcinomas (ACC).
Transcriptomic characterization of fibrolamellar hepatocellular carcinoma.
New York City, United States. In Proc Natl Acad Sci U S A, Dec 2015
Fibrolamellar hepatocellular carcinoma (FLHCC) tumors all carry a deletion of ∼400 kb in chromosome 19, resulting in a fusion of the genes for the heat shock protein, DNAJ (Hsp40) homolog, subfamily B, member 1, DNAJB1, and the catalytic subunit of protein kinase A, PRKACA.
cAMP signaling in cortisol-producing adrenal adenoma.
Würzburg, Germany. In Eur J Endocrinol, Oct 2015
During the last year, a report by our group and three additional independent groups showed that somatic mutations of PRKACA, the gene coding for the catalytic subunit α of PKA, are a common genetic alteration in patients with Cushing's syndrome due to adrenal adenomas, occurring in 35-65% of the patients.
Carney complex: an update.
Bethesda, United States. In Eur J Endocrinol, Oct 2015
Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas).
Genomic spectra of biliary tract cancer.
Tokyo, Japan. In Nat Genet, Sep 2015
Gene fusions involving FGFR2 and PRKACA or PRKACB preferentially occurred in ICC and ECC, respectively, and the subtype-associated prevalence of actionable growth factor-mediated signals was noteworthy.
Novel Insights into the Genetics and Pathophysiology of Adrenocortical Tumors.
Paris, France. In Front Endocrinol (lausanne), 2014
Among these are somatic mutations of PKA catalytic subunit alpha gene (PRKACA) in ACA, germline, and somatic mutations of armadillo repeat containing 5 gene (ARMC5) in primary bilateral macronodular adrenal hyperplasia and somatic alterations of the E3 ubiquitin ligase gene ZNRF3 in ACC.
Detection of a recurrent DNAJB1-PRKACA chimeric transcript in fibrolamellar hepatocellular carcinoma.
New York City, United States. In Science, 2014
The chimeric RNA is predicted to code for a protein containing the amino-terminal domain of DNAJB1, a homolog of the molecular chaperone DNAJ, fused in frame with PRKACA, the catalytic domain of protein kinase A. Immunoprecipitation and Western blot analyses confirmed that the chimeric protein is expressed in tumor tissue, and a cell culture assay indicated that it retains kinase activity.