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Depression and psychosis are described as a part of the ADCY5-related dyskinesia phenotypic spectrum.
Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy.
In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia
ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.
ADCY5 gene mutations can present with a wider variety of movement disorder syndromes.
ADCY5, which encodes adenylyl cyclase type 5, and RAP2C, which encodes a member of the RAS oncogene family, had associations of nearly genomewide significance. ADCY5 locus have been reported to be associated with birth weight and type 2 diabetes however, none were in linkage disequilibrium with the SNPs showing significant association with gestational duration.
These data suggest that rs11708067-A risk allele contributes to type 2 diabetes by disrupting an islet enhancer, which results in reduced ADCY5 expression and impaired insulin secretion.
This study demonstrated that whole-exome sequencing show reveled ADCY5 mutation with early-onset generalized dystonia.
the clinical spectrum of ADCY5 mutations encompasses paroxysmal weakness in addition to paroxysmal dyskinesia and persistent hyperkinesia, nominating ADCY5 mutations as a genetic cause of unexplained alternating hemiplegia of childhood.
This study showed that ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.(
Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2
changes in adipose tissue ADCY5 expression are related to obesity and fat distribution.
This study identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia.
these results suggest that AnxA4 is a novel direct negative regulator of AC5, adding a new facet to the functions of annexins.
Mutations in ADCY5 were linked to benign hereditary chorea.
LRs are essential not only for the proper membrane distribution and maintenance of AC5/6 activity but also for the regulation of D1R- and D5R-mediated AC signaling.
Alterations in beta-cell ADCY5 expression and impaired glucose signaling thus provide a likely route through which ADCY5 gene polymorphisms influence fasting glucose levels and T2D risk, while exerting more minor effects on incretin action
the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia
AC5, by binding active Galphai1, interferes with G-protein deactivation and reassembly and thereby might sensitize its own regulation.
Polymorphisms ADCY5 are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.
AC5 contributes importantly to increased renal cAMP levels and cyst growth in Pkd2 mutant mice, and inhibition of AC5 may be beneficial in the treatment of polycystic kidney disease.
AC5 mutation produces autistic-like symptoms through the upregulation of mGluR5 functions in the dorsal striatum and that the dorsal striatum regulated by AC5 is a neural correlate responsible for core Autism spectrum disorders symptoms
Results show that both ATP and Gsalpha binding have significant effects on the structure and flexibility of adenylyl cyclase. New data on ATP bound to AC5 in the absence of Gsalpha notably help to explain how Gsalpha binding enhances enzyme activity and could aid product release. Simulations also suggest a possible coupling between ATP binding and interactions with the inhibitory G-protein subunit Galphai.
AC5 knockout mice, without exercise training, share similar mechanisms responsible for enhanced exercise capacity with chronic exercise training.
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in a model of autosomal dominant polycystic liver disease.
Epac1 is involved in AC5-mediated catecholamine stress-induced cardiac fibrosis. Epac1 is involved in AC5-mediated elongation of atrial fibrillation.
In this study, we report that in the striatum AC5 exists in a stable pre-coupled complex with subunits of Golf heterotrimer.
These results identify the AC5 and mGluR system in the dorsal striatum as molecular on/off switches to direct decisions on behavioral preferences for cue-oriented options
deficiency of AC5 protects against obesity, glucose intolerance, and insulin resistance.
Myocardial adrenergic receptor beta 1 preferentially associates with AC5.
Disruption of AC5 prevents cardiomyopathy induced by chronically enhanced beta-AR signaling in mice with overexpressed beta-AR, potentially by enhancing resistance to oxidative stress and apoptosis, suggesting a novel, alternative approach to beta-AR blockade.
AC5 knockout mice delayed age-related tumor incidence significantly.
These results identify the AC5/cAMP system in the dorsal striatum as a therapeutic target for the treatment of L-DOPA-induced dyskinesia in patients with Parkinson's disease.
Cytokine-induced iNOS and ERK1/2 inhibit adenylyl cyclase type 5/6 activity and stimulate phosphodiesterase 4D5 activity in intestinal longitudinal smooth muscle, contributing to colonic dysmotility during inflammation.
ACV isoform is localized mainly in the t-tubular region of cardiac myocytes where its influence on L-type calcium channels is restricted by phosphodiesterase.
Overexpression of AC5 exacerbates the cardiomyopathy induced by chronic catecholamine stress by altering regulation of SIRT1/FoxO3a, MEK/ERK, and MnSOD.
results demonstrate a crosstalk between two metabotropic and one ionotropic purinergic receptor that regulates cAMP levels through adenylate cyclase 5 and modulates axonal elongation triggered by neurotropic factors and the PI3K-Akt-GSK3 pathway
AC5 knockout and caloric restriction mice share many tissue-specific pathways in the regulation of longevity and stress resistance
Describe developmental expression of adenylyl cyclase 5.
our data suggest that AC5 is the prevalent adenylyl cyclase isoform in rabbit renal cortex
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene.
adenylate cyclase type 5
, adenylyl cyclase type V
, adenylate cyclase 5
, ATP pyrophosphate-lyase 5
, adenylate cyclase type V
, adenylyl cyclase 5
, ca(2+)-inhibitable adenylyl cyclase