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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 (show RAP2C Proteins), which encodes a member of the RAS oncogene (show RAB1A Proteins) 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 (show INS Proteins) 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 (show ADRA2A Proteins), CDKAL1 (show CDKAL1 Proteins), CDKN2A/B, GRB10 (show GRB10 Proteins), and TCF7L2 (show TCF7L2 Proteins)
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.
Epac1 (show RAPGEF3 Proteins) is involved in AC5-mediated catecholamine stress-induced cardiac fibrosis. Epac1 (show RAPGEF3 Proteins) 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 suggest that AnxA4 (show ANXA4 Proteins) is a novel direct negative regulator of AC5, adding a new facet to the functions of annexins.
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 (show INS Proteins) resistance.
Myocardial adrenergic receptor beta 1 (show ADRB1 Proteins) 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.
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