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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 (Montrer RAP2C Protéines), which encodes a member of the RAS oncogene (Montrer RAB1A Protéines) 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 (Montrer INS Protéines) 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 (Montrer ADRA2A Protéines), CDKAL1 (Montrer CDKAL1 Protéines), CDKN2A/B, GRB10 (Montrer GRB10 Protéines), and TCF7L2 (Montrer TCF7L2 Protéines)
AC5 mutation produces autistic-like symptoms through the upregulation of mGluR5 (Montrer GRM5 Protéines) 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 (Montrer RAPGEF3 Protéines) is involved in AC5-mediated catecholamine stress-induced cardiac fibrosis. Epac1 (Montrer RAPGEF3 Protéines) 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.
changes in adipose tissue ADCY5 expression are related to obesity and fat distribution.
these results suggest that AnxA4 (Montrer ANXA4 Protéines) 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 (Montrer INS Protéines) 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