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Missense Mutation in GABBR2 gene is associated with Neurodevelopmental Disorders.
GABBR2 is a genetic factor that determines Rett syndrome- or epileptic encephalopathy-like phenotype expression depending on the variant positions. GABBR2-mediated gamma-aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes.
a GABBR2 variant, predicted to be disease-causative, was significantly associated with corticospinal excitability at corrected levels. A subsequent uncorrected exploratory analysis revealed associations between GABBR2, GABRA2 (show GABRA2 Proteins) and DRD2 (show DRD2 Proteins) variants with transcranial magnetic stimulation measures of corticospinal excitability and cortical inhibition in Huntington's disease, as well as with age at onset.
The rare variants in GABBR2 were significantly associated with smoking status.
GABBR2 receptors are expressed in aortic smooth muscle cells and regulate the [Ca(2 (show CA2 Proteins)+)]i via a Gi/o-coupled receptor pathway and a phospholipase C (show PLC Proteins) activation pathway.
Putative GABAA (show GABRg1 Proteins) and ASIC1a (show ACCN2 Proteins) channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex.
gamma-aminobutyric acidB receptor proteasomal degradation is mediated by the interaction of the GABAB2 C terminus with the proteasomal ATPase Rtp6 and regulated by neuronal activity
and GABABR2 proteins are reduced in the prefrontal cortex of aged rats but these reductions are not associated with spatial learning abilities.
The GABBR2 ectodomain adopts a constitutively open conformation, suggesting a structural asymmetry in the active state of GABA(B) receptor that is unique to the GABAergic system.
The results indicate that there may be specific GABA receptor gene expression variation in migraine, particularly involving the GABRA3 (show GABRA3 Proteins) and GABBR2 genes.
Immunoblotting and RT-PCR results showed that NIHL increased the expression of PKCgamma (show PRKCG Proteins) but decreased that of GABABR1 (show GABBR1 Proteins) and GABABR2 at both protein and mRNA levels in the CNC
GABABR2 has a role as a regulator of glutamine synthetase (show GLUL Proteins) stability
siRNA knock-down of NgR1 (show NEUROG1 Proteins) resulted in a selective increase of GABAB R1 and GABAB R2 protein and an increase in GIRK1 (show KCNJ3 Proteins).
Cadm1 (show CADM1 Proteins) specifically interacts with Mupp1, and may form a ternary complex with Mupp1-GABBR2 in the cerebellum.
Gabbr1 (show GABBR1 Proteins) and Gabbr2 transcription levels were altered in cerebral areas related to drug taking only in mice behaviorally classified as "addicted" drinkers
GABA(B)R is predominantly expressed by osteoblasts to negatively regulate osteoblastogenesis through down-regulation of BMP2 (show BMP2 Proteins) expression toward disturbance of osteoclastogenesis after down-regulation of RANKL (show TNFSF11 Proteins) expression in mouse bone.
results suggest that GABA(B)R2 protein levels are closely correlated with the partner subunit GABA(B)R1 (show GABBR1 Proteins) protein levels in mouse brains during postnatal development in vivo
Our data suggest that association of GABAB(2) with GABAB(1 (show GABBR1 Proteins)) is essential for receptor localization in distal processes but not absolutely necessary for signaling. Functional GABAB receptors may exist in neurons that naturally lack GABAB(2) subunits.
Activation of GABA(B) receptor by either GABA or the selective agonist baclofen induces ERK(1 (show MAPK3 Proteins)/2) phosphorylation in cultured cerebellar granule neurons.
GABABR2 are expressed in the cerebellar cortex, supporting previous studies showing that inhibitory neurotransmission is highly patterned in the cerebellar cortex.
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.
gamma-aminobutyric acid (GABA) B receptor, 2
, gamma-aminobutyric acid type B receptor subunit 2-like
, G protein-coupled receptor 51
, G-protein coupled receptor 51
, GABA-B R2 receptor
, GABA-B receptor 2
, gamma-aminobutyric acid type B receptor subunit 2
, GABA-B receptor, R2 subunit
, gamma-aminobutyric acid B receptor 2
, gamma-aminobutyric acid type B receptor, subunit 2
, ortholog of human G protein-coupled receptor 51 GPR51