Functional studies on the PKA regulatory subunit mutant R74C found in Carney complex (913.11)
نویسندگان
چکیده
منابع مشابه
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1alpha gene encoding the R1alpha regulatory subunit of...
متن کاملAKAPs Bind PKA Regulatory Subunit Dimers
site for AKAPs the PKA an “hydrophobic Although a p dimers contai chains, the co generates a re difference in t posed as a me differentially i Highly loca by the uniqu associated wit AKAPs for RII variations wit late with diffe site (2, 111). F called Ht31, domain of AK to disrupt RII: much higher 1,030–1,277 n affinity betw AKAPs have a tion can be m analysis, and demonstrated affinities for s...
متن کاملMutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as pa...
متن کامل[Carney complex].
Carney complex (CNC) is an autosomal dominantly inherited syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxoma, and endocrine overactivity. Skin pigmentation includes lentigines and blue nevi. Myxomas may occur in breast, skin and heart. Cardiac myxomas may be multiple and occur in any cardiac chamber, and are more prone to recurrence. The most common endocrine gland...
متن کاملPKA catalytic subunit mutations in adrenocortical Cushing's adenoma impair association with the regulatory subunit.
We recently identified a high prevalence of mutations affecting the catalytic (Cα) subunit of protein kinase A (PKA) in cortisol-secreting adrenocortical adenomas. The two identified mutations (Leu206Arg and Leu199_Cys200insTrp) are associated with increased PKA catalytic activity, but the underlying mechanisms are highly controversial. Here we utilize a combination of biochemical and optical a...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2014
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.28.1_supplement.913.11