Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations

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Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations. / Calebiro, Davide; Bathon, K.; Weigand, I.

In: Hormone and Metabolic Research, Vol. 49, No. 4, 01.04.2017, p. 307-314.

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Calebiro, Davide ; Bathon, K. ; Weigand, I. / Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations. In: Hormone and Metabolic Research. 2017 ; Vol. 49, No. 4. pp. 307-314.

Bibtex

@article{83e3f703cfa74dc795a1989a8dd767f4,
title = "Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations",
abstract = "Somatic mutations in PRKACA, coding for the catalytic α subunit of protein kinase A (PKA), have been recently identified as the most frequent genetic alteration in cortisol-secreting adrenocortical adenomas, which are responsible for adrenal Cushing's syndrome. The mutations identified so far lie at the interface between the catalytic (C) and regulatory (R) subunit of PKA. Detailed functional studies of the most frequent of these mutations (L206R) as well as of another one in the same region of the C subunit (199-200insW) have revealed that these mutations cause constitutive activation of PKA and lack of regulation by cAMP. This is due to interference with the binding of the R subunit, which keeps the C subunit inactive in the absence of cyclic AMP. Here, we review these recent findings, with a particular focus on the mechanisms of action of PRKACA mutations.",
keywords = "cAMP, Cushing's syndrome, PRKACA mutation",
author = "Davide Calebiro and K. Bathon and I. Weigand",
year = "2017",
month = apr,
day = "1",
doi = "10.1055/s-0042-112817",
language = "English",
volume = "49",
pages = "307--314",
journal = "Hormone and Metabolic Research",
issn = "0018-5043",
publisher = "Thieme Publishing",
number = "4",

}

RIS

TY - JOUR

T1 - Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations

AU - Calebiro, Davide

AU - Bathon, K.

AU - Weigand, I.

PY - 2017/4/1

Y1 - 2017/4/1

N2 - Somatic mutations in PRKACA, coding for the catalytic α subunit of protein kinase A (PKA), have been recently identified as the most frequent genetic alteration in cortisol-secreting adrenocortical adenomas, which are responsible for adrenal Cushing's syndrome. The mutations identified so far lie at the interface between the catalytic (C) and regulatory (R) subunit of PKA. Detailed functional studies of the most frequent of these mutations (L206R) as well as of another one in the same region of the C subunit (199-200insW) have revealed that these mutations cause constitutive activation of PKA and lack of regulation by cAMP. This is due to interference with the binding of the R subunit, which keeps the C subunit inactive in the absence of cyclic AMP. Here, we review these recent findings, with a particular focus on the mechanisms of action of PRKACA mutations.

AB - Somatic mutations in PRKACA, coding for the catalytic α subunit of protein kinase A (PKA), have been recently identified as the most frequent genetic alteration in cortisol-secreting adrenocortical adenomas, which are responsible for adrenal Cushing's syndrome. The mutations identified so far lie at the interface between the catalytic (C) and regulatory (R) subunit of PKA. Detailed functional studies of the most frequent of these mutations (L206R) as well as of another one in the same region of the C subunit (199-200insW) have revealed that these mutations cause constitutive activation of PKA and lack of regulation by cAMP. This is due to interference with the binding of the R subunit, which keeps the C subunit inactive in the absence of cyclic AMP. Here, we review these recent findings, with a particular focus on the mechanisms of action of PRKACA mutations.

KW - cAMP

KW - Cushing's syndrome

KW - PRKACA mutation

UR - http://www.scopus.com/inward/record.url?scp=84994634525&partnerID=8YFLogxK

U2 - 10.1055/s-0042-112817

DO - 10.1055/s-0042-112817

M3 - Review article

AN - SCOPUS:84994634525

VL - 49

SP - 307

EP - 314

JO - Hormone and Metabolic Research

JF - Hormone and Metabolic Research

SN - 0018-5043

IS - 4

ER -