Genomes and Genes
Gene Symbol: GNAO1
Description: G protein subunit alpha o1
Alias: EIEE17, G-ALPHA-o, GNAO, HLA-DQB1, NEDIM, guanine nucleotide-binding protein G(o) subunit alpha, GO2-q chimeric G-protein, guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O, guanine nucleotide-binding regulatory protein 2
Publications101 found, 100 shown here
- Guzzi F, Celano E, Levi G, Parenti M. Interaction between HIV-1 NEF and G(o) proteins in transfected COS-7 cells. Biochem Biophys Res Commun. 2000;270:570-5 pubmed..We conclude that Nef interacts with nonpalmitoylated G(o)alpha, presumably outside caveolin-rich microdomains of the plasma membrane. ..
- Marcé Grau A, Dalton J, López Pisón J, García Jiménez M, Monge Galindo L, Cuenca León E, et al. GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. Orphanet J Rare Dis. 2016;11:38 pubmed publisherDe novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, ..
- Mou T, Zhu D, Wei X, Li T, Zheng D, Pu J, et al. Identification and interaction analysis of key genes and microRNAs in hepatocellular carcinoma by bioinformatics analysis. World J Surg Oncol. 2017;15:63 pubmed publisher..Among them, ESR1 was found to have close interactions with FOXO1, CXCL12, and GNAO1. In addition, a total of 64 DEMs were identified, which included 58 up-regulated miRNAs and 6 down-regulated ..
- Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, et al. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J Neurol Sci. 2018;391:31-39 pubmed publisher..b>GNAO1 has been recently identified to be involved in the pathogenesis of early infantile epileptic encephalopathy and ..
- Wu H, Lin C. Association of heterotrimeric GTP binding regulatory protein (Go) with mitosis. Lab Invest. 1994;71:175-81 pubmed..This finding suggests that Go protein may play some role in the regulation of mitotic spindles in addition to its regulation of signal transduction in neuronal cell membranes. ..
- Kuboki Y, Shimizu K, Hatori T, Yamamoto M, Shibata N, Shiratori K, et al. Molecular biomarkers for progression of intraductal papillary mucinous neoplasm of the pancreas. Pancreas. 2015;44:227-35 pubmed publisher..GNAS and KRAS mutations were detected in 48% and 56% of IPMNs, respectively. No mutations of EGFR, PIK3CA GNAO1, GNAQ, or GNAI2 were observed...
- Pandey M, Zhang J, Mishra S, Adikaram P, Harris B, Kahler J, et al. A central role for R7bp in the regulation of itch sensation. Pain. 2017;158:931-944 pubmed publisher..Knock-in to mice of a GTPase activating protein-insensitive mutant of G?o (Gnao1 G184S/+) produces a similar pruriceptive phenotype...
- Murtagh J, Eddy R, Shows T, Moss J, Vaughan M. Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16. Mol Cell Biol. 1991;11:1146-55 pubmed..The use of oligonucleotide probes of the type described here represents a new strategy, potentially widely applicable for mapping and elucidating structural features of genes. ..
- Foley J, Singh S, Cantu M, Chen L, Zhang H, Farber J. Differentiation of human T cells alters their repertoire of G protein alpha-subunits. J Biol Chem. 2010;285:35537-50 pubmed publisher..Together, our data reveal a change in the repertoire of G?(i/o) subunits during T cell differentiation and suggest functional equivalence among G?(i/o) subunits irrespective of their relative abundance. ..
- Sharma V, Young L, Allison A, Owen K. Registered report: Diverse somatic mutation patterns and pathway alterations in human cancers. elife. 2016;5: pubmed publisher..identified a previously uncharacterized arginine 243 to histidine (R243H) mutation in the G-protein Î± subunit GNAO1 in breast carcinoma tissue...
- Carecchio M, Mencacci N. Emerging Monogenic Complex Hyperkinetic Disorders. Curr Neurol Neurosci Rep. 2017;17:97 pubmed publisher..The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, ..
- PÃ©rez GÃ³mez A, Bleymehl K, Stein B, Pyrski M, Birnbaumer L, Munger S, et al. Innate Predator Odor Aversion Driven by Parallel Olfactory Subsystems that Converge in the Ventromedial Hypothalamus. Curr Biol. 2015;25:1340-6 pubmed publisher..responses in specific subsystems through disruption of genes encoding key sensory transduction proteins (Cnga3, Gnao1) or by surgical axotomy abolished avoidance behaviors and/or cellular Ca(2+) responses to different predator odors...
- Feng H, Khalil S, Neubig R, Sidiropoulos C. A mechanistic review on GNAO1-associated movement disorder. Neurobiol Dis. 2018;116:131-141 pubmed publisher..GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements ..
- Xu D, Du M, Zhang J, Xiong P, Li W, Zhang H, et al. DNMT1 mediated promoter methylation of GNAO1 in hepatoma carcinoma cells. Gene. 2018;665:67-73 pubmed publisher..In our previous study, GNAO1, one of members of G protein, was found to be down-regulated in HCC...
- Tall G, Krumins A, Gilman A. Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor. J Biol Chem. 2003;278:8356-62 pubmed..Ric-8A interacts with GDP-bound Galpha proteins, stimulates release of GDP, and forms a stable nucleotide-free transition state complex with the Galpha protein; this complex dissociates upon binding of GTP to Galpha. ..
- Krishnan A, Mustafa A, AlmÃ©n M, Fredriksson R, Williams M, SchiÃ¶th H. Evolutionary hierarchy of vertebrate-like heterotrimeric G protein families. Mol Phylogenet Evol. 2015;91:27-40 pubmed publisher..also indicate that the GNAI/O-like gene likely duplicated in the last CA of metazoans to give rise to GNAI- and GNAO-like genes, which are conserved across invertebrates...
- Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, et al. A case of severe movement disorder with GNAO1 mutation responsive to topiramate. Brain Dev. 2017;39:439-443 pubmed publisherWe report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation...
- Yin Q, Zhang Y, Dong D, Lei M, Zhang S, Liao C, et al. Maintenance of neural activities in torpid Rhinolophus ferrumequinum bats revealed by 2D gel-based proteome analysis. Biochim Biophys Acta Proteins Proteom. 2017;1865:1004-1019 pubmed publisher..In addition, the levels of GNAO1 (guanine nucleotide-binding protein G?o subunit), an important modulator of neuronal transmembrane ..
- Sallese M, Mariggio S, D Urbano E, Iacovelli L, De Blasi A. Selective regulation of Gq signaling by G protein-coupled receptor kinase 2: direct interaction of kinase N terminus with activated galphaq. Mol Pharmacol. 2000;57:826-31 pubmed..We conclude that GRK2, besides desensitizing the GPCR by phosphorylation, is able to selectively bind to Galphaq and to regulate its signaling. ..
- Zupancic K, Blejec A, Herman A, Veber M, Verbovšek U, Korsic M, et al. Identification of plasma biomarker candidates in glioblastoma using an antibody-array-based proteomic approach. Radiol Oncol. 2014;48:257-66 pubmed publisher..Guanine nucleotide binding protein alpha (GNAO1) was associated with both GBM presence and survival of patients with GBM...
- Mueller A, Strange P. CCL3, acting via the chemokine receptor CCR5, leads to independent activation of Janus kinase 2 (JAK2) and Gi proteins. FEBS Lett. 2004;570:126-32 pubmed..Gi protein activation was not prevented by inhibition of JAK, showing that heterotrimeric G protein activation and activation of the JAK/signal transducer and activator of transcription (STAT) pathway are independent of each other. ..
- PÃ©rez RamÃrez M, HernÃ¡ndez JimÃ©nez A, Guerrero Guerrero A, BenadÃ³n Darszon E, PÃ©rezpeÃ±a DÃazconti M, Siordia Reyes A, et al. Genomics and epigenetics: A study of ependymomas in pediatric patients. Clin Neurol Neurosurg. 2016;144:53-8 pubmed publisher..We found 481 genes with altered expression. The genes IMMT, JHDMD1D, ASAH1, ZWINT, IPO7, GNAO1 and CISD3 were found to be altered among the three levels. The 2p22.3, 8p11.23-p11.22 and 14q32...
- Menke L, Engelen M, Alders M, Odekerken V, Baas F, Cobben J. Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. J Child Neurol. 2016;31:1598-1601 pubmed..developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged...
- Shuey D, Betty M, Jones P, Khawaja X, Cockett M. RGS7 attenuates signal transduction through the G(alpha q) family of heterotrimeric G proteins in mammalian cells. J Neurochem. 1998;70:1964-72 pubmed..Our findings provide further evidence to support a functional role for RGS4 and RGS7 in G(alpha q)-mediated signaling in the CNS. ..
- Liu Z, Zhang J, Wu L, Liu J, Zhang M. Overexpression of GNAO1 correlates with poor prognosis in patients with gastric cancer and plays a role in gastric cancer cell proliferation and apoptosis. Int J Mol Med. 2014;33:589-96 pubmed publisherGuanine nucleotide-binding protein (G protein), alpha activating activity polypeptide O (GNAO1) encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G?o), which plays a significant role in the development ..
- Rim J, Kim S, Hwang I, Kwon S, Kim J, Kim H, et al. Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. BMC Med Genomics. 2018;11:6 pubmed publisher..genes including SXTBP1 (n = 3), CDKL5 (n = 2), KCNQ2 (n = 2), SCN1A (n = 2), SYNGAP1 (n = 2), GNAO1 (n = 2), KCNT1 (n = 2), BRAT1, WWOX, ZEB2, CHD2, PRICKLE2, COL4A1, DNM1, SCN8A, MECP2, SLC9A6 (n = 1)...
- Zhou J, Moroi K, Nishiyama M, Usui H, Seki N, Ishida J, et al. Characterization of RGS5 in regulation of G protein-coupled receptor signaling. Life Sci. 2001;68:1457-69 pubmed
- Qin Y, Ji J, Du G, Wu W, Dai J, Hu Z, et al. Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk. Hum Reprod. 2014;29:860-6 pubmed publisher..affect spermatogenesis confer susceptibility to non-obstructive azoospermia (NOA)? Rs1406714 in CHD2, rs2126986 in GNAO1 and rs7226979 in BCL2 were associated with NOA in Han Chinese men at a significant level after multiple testing ..
- Xiong J, Peng J, Duan H, Chen C, Wang X, Chen S, et al. [Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant]. Zhongguo Dang Dai Er Ke Za Zhi. 2018;20:154-157 pubmed..Gene detection revealed a de novo heterozygous mutation, c.607G>A (p.G203R) , in GNAO1. The girl was then diagnosed with GNAO1-associated early infantile epileptic encephalopathy (EIEE type 17)...
- Gabrion J, Brabet P, Nguyen Than Dao B, Homburger V, Dumuis A, Sebben M, et al. Ultrastructural localization of the GTP-binding protein Go in neurons. Cell Signal. 1989;1:107-23 pubmed
- Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, et al. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016;60:83-7 pubmed publisher..We identified disease-causing mutations in known genes associated with neurodevelopmental disorders including GNAO1 and CDKL5 in two of four individuals...
- Yang J, Cai W, Lu X, Liu S, Zhao S. RNA-Sequencing Analyses Demonstrate the Involvement of Canonical Transient Receptor Potential Channels in Rat Tooth Germ Development. Front Physiol. 2017;8:455 pubmed publisher..We found that GNAO1, ENO1, EFNB1, CALM1, SIAH2, ATP6V0A1, KDELR2, GTPBP1, POLR2C, SORT1, and members of the canonical transient ..
- Dhingra A, Lyubarsky A, Jiang M, Pugh E, Birnbaumer L, Sterling P, et al. The light response of ON bipolar neurons requires G[alpha]o. J Neurosci. 2000;20:9053-8 pubmed..This represents the first function to be defined in vivo for the alpha subunit of the most abundant G-protein of the brain. ..
- Berstein G, Blank J, Jhon D, Exton J, Rhee S, Ross E. Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator. Cell. 1992;70:411-8 pubmed..Such GAP activity by an effector coupled to a trimeric G protein can reconcile slow GTP hydrolysis by pure G proteins in vitro with fast physiologic deactivation of G protein-mediated signaling. ..
- Tsukamoto T, Toyama R, Itoh H, Kozasa T, Matsuoka M, Kaziro Y. Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing. Proc Natl Acad Sci U S A. 1991;88:2974-8 pubmed..Like Go alpha-1, Go alpha-2 is expressed mainly in brain. ..
- Luo Y, Denker B. Interaction of heterotrimeric G protein Galphao with Purkinje cell protein-2. Evidence for a novel nucleotide exchange factor. J Biol Chem. 1999;274:10685-8 pubmed..These findings define a novel nucleotide exchange function for Pcp2 and suggest that the interaction between Pcp2 and Galphao is important to Purkinje cell function. ..
- Yeo A, Samways D, Fowler C, Gunn Moore F, Henderson G. Coincident signalling between the Gi/Go-coupled delta-opioid receptor and the Gq-coupled m3 muscarinic receptor at the level of intracellular free calcium in SH-SY5Y cells. J Neurochem. 2001;76:1688-700 pubmed
- Nobles M, Benians A, Tinker A. Heterotrimeric G proteins precouple with G protein-coupled receptors in living cells. Proc Natl Acad Sci U S A. 2005;102:18706-11 pubmed..Our work suggests that GPCR dimers and the G protein heterotrimer are present at the cell membrane in the resting state in a pentameric complex. ..
- Law C, Chang S, Cho S, Yau E, Ng G, Fong N, et al. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. Clin Chim Acta. 2015;451:292-6 pubmed publisher..WES revealed a novel heterozygous missense pathogenic variant, GNAO1:NM_020988.2:c.118G>A; NP_066268.1:p.Gly40Arg...
- Denker B, Neer E, Schmidt C. Mutagenesis of the amino terminus of the alpha subunit of the G protein Go. In vitro characterization of alpha o beta gamma interactions. J Biol Chem. 1992;267:6272-7 pubmed..Deletion of this region diminishes the ability of alpha o to interact with the beta gamma subunit, but substitutions at this position indicate that other amino acids can be tolerated without affecting subunit interaction. ..
- Georgoussi Z, Carr C, Milligan G. Direct measurements of in situ interactions of rat brain opioid receptors with the guanine nucleotide-binding protein Go. Mol Pharmacol. 1993;44:62-9 pubmed..Use of antiserum OC2 in experiments that allowed pharmacological examination of only the mu-opioid receptor provided independent evidence for the interaction of this receptor site with Go. ..
- Liang M, Freedman N, Theiss C, Liggett S. Serine 232 of the alpha(2A)-adrenergic receptor is a protein kinase C-sensitive effector coupling switch. Biochemistry. 2001;40:15031-7 pubmed..This represents one mechanism by which cells route stimuli directed to multifunctional receptors to selected effectors so as to attain finely targeted signaling. ..
- Vanhauwe J, Thomas T, Minshall R, Tiruppathi C, Li A, Gilchrist A, et al. Thrombin receptors activate G(o) proteins in endothelial cells to regulate intracellular calcium and cell shape changes. J Biol Chem. 2002;277:34143-9 pubmed..We conclude that the G(o) proteins play a role in thrombin signaling distinct from G(i1/2) proteins, which are mediated through their Gbetagamma subunits and involve coupling to calcium signaling and cytoskeletal rearrangements. ..
- Zhang W, Zhang Z, Ni Y, Wu Y, Pei G. A novel function of Goalpha: mediation of extracellular signal-regulated kinase activation by opioid receptors in neural cells. J Neurochem. 2003;86:1213-22 pubmed..This study suggests that one of the functions of Goalpha in the brain is to mediate extracellular signal-regulated kinase activation by G protein-coupled receptors. ..
- Dhingra A, Faurobert E, Dascal N, Sterling P, Vardi N. A retinal-specific regulator of G-protein signaling interacts with Galpha(o) and accelerates an expressed metabotropic glutamate receptor 6 cascade. J Neurosci. 2004;24:5684-93 pubmed..This would tend to match its kinetics to that of the OFF bipolar that arises directly from ligand-gated channels. ..
- Saleem Y, Kim K. RGS11 interacts preferentially with R7BP over Galpha(oa)--characterization of Gbeta5-free RGS11. Biochem Biophys Res Commun. 2009;386:65-70 pubmed publisher..In addition, we identified a novel interaction between Galpha(oa) and R7BP with a K(D) of 592 (+/- 150) nM. The production of stable and functional rRGS11 would provide chances to discover more functions of RGS11 yet to be identified. ..
- Kim J, Kim Y, Ko J. CKbeta8/CCL23 and its isoform CKbeta8-1 induce up-regulation of cyclins via the G(i)/G(o) protein/PLC/PKCdelta/ERK leading to cell-cycle progression. Cytokine. 2010;50:42-9 pubmed publisher..These results indicate that both CKbeta8 and CKbeta8-1 are involved in cell proliferation by modulating the cell cycle regulators. ..
- Bratton M, Antoon J, Duong B, Frigo D, Tilghman S, Collins Burow B, et al. G?o potentiates estrogen receptor ? activity via the ERK signaling pathway. J Endocrinol. 2012;214:45-54 pubmed publisher..In summary, our results show that G?(o), through activation of the MAPK pathway, plays a role in the regulation of ER? activity. ..
- Pei X, Zhang J, Wu L, Lu B, Zhang X, Yang D, et al. The down-regulation of GNAO1 and its promoting role in hepatocellular carcinoma. Biosci Rep. 2013;33: pubmed publisherb>GNAO1 (guanine nucleotide-binding protein, ?-activating activity polypeptide O) is a member of the subunit family of G? proteins, which are molecular switchers controlling signal transductions and whose deregulation can promote ..
- Jin M, Yu B, Zhang W, Zhang W, Xiao Z, Mao Z, et al. Toll-like receptor 2-mediated MAPKs and NF-?B activation requires the GNAO1-dependent pathway in human mast cells. Integr Biol (Camb). 2016;8:968-75 pubmed publisher..Taken together, the data presented here suggest that TLR2 activation in human mast cells promotes the release of inflammatory mediators via distinct signaling pathways that partially depend on the action of Go proteins. ..
- Coupry I, Duzic E, Lanier S. Factors determining the specificity of signal transduction by guanine nucleotide-binding protein-coupled receptors. II. Preferential coupling of the alpha 2C-adrenergic receptor to the guanine nucleotide-binding protein, Go. J Biol Chem. 1992;267:9852-7 pubmed..This report indicates the utility of R-G cotransfection in mammalian cells as a "natural environment model" to characterize events occurring at the R-G and G-E interface. ..
- Duc Goiran P, Bourgeois C, Mignot T, Robert B, Tanguy G, Ferre F. Identification and expression of Go1 and Go2 alpha-subunit transcripts in human myometrium in relation to pregnancy. Biol Reprod. 1999;60:1528-35 pubmed..It is suggested that Goalpha gene expression in this tissue may contribute to modifications seen in the signaling pathways observed at the end of pregnancy. ..
- Woulfe D, Stadel J. Structural basis for the selectivity of the RGS protein, GAIP, for Galphai family members. Identification of a single amino acid determinant for selective interaction of Galphai subunits with GAIP. J Biol Chem. 1999;274:17718-24 pubmed..Thus, GAIP was able to discriminate between Galphai1 and Galphai2 in both binding and functional assays, and in both cases residue 229/230 played a critical role in selective recognition. ..
- Waldhoer M, Wise A, Milligan G, Freissmuth M, Nanoff C. Kinetics of ternary complex formation with fusion proteins composed of the A(1)-adenosine receptor and G protein alpha-subunits. J Biol Chem. 1999;274:30571-9 pubmed..These features provide for a kinetic proofreading mechanism that sustains the fidelity of receptor-G protein coupling. ..
- Traver S, Bidot C, Spassky N, Baltauss T, de Tand M, Thomas J, et al. RGS14 is a novel Rap effector that preferentially regulates the GTPase activity of galphao. Biochem J. 2000;350 Pt 1:19-29 pubmed
- Caricasole A, Sala C, Roncarati R, Formenti E, Terstappen G. Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1). Biochim Biophys Acta. 2000;1517:63-72 pubmed..Finally, we characterized the structure of the PLC beta 1 locus and confirmed its mapping to human chromosome 20. ..
- Raymond J, Mukhin Y, Gelasco A, Turner J, Collinsworth G, Gettys T, et al. Multiplicity of mechanisms of serotonin receptor signal transduction. Pharmacol Ther. 2001;92:179-212 pubmed..This review will focus on what is known about the signaling linkages of the G-protein-linked 5-HT receptors, and will highlight some fascinating new insights into 5-HT receptor signaling. ..
- Won J, Park J, Ju H, Kim S, Suh Kim H, Ghil S. The alpha subunit of Go interacts with promyelocytic leukemia zinc finger protein and modulates its functions. Cell Signal. 2008;20:884-91 pubmed publisher..These results collectively suggest that Goalpha modulates the function of PLZF via direct interactions. Our novel findings provide insights into the diverse cellular roles of Goalpha and its coupled receptor. ..
- Beqollari D, Betzenhauser M, Kammermeier P. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. Mol Pharmacol. 2009;76:992-7 pubmed publisher..Most importantly, our results indicate a switch in G-protein coupling, in which E775K loses G(o) coupling but retains coupling to G(i), which may explain the phenotype. ..
- Kulkarni N, Tang S, Bhardwaj R, Bernes S, Grebe T. Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. J Child Neurol. 2016;31:211-4 pubmed publisherb>GNAO1, located on chromosome 16q12.2, encodes for 1 of the heterotrimeric guanine binding proteins subunits (G proteins), specifically GÎ±o, which has been implicated as having an important role in brain function...
- Couto J, Huang L, Vivero M, Kamitaki N, Maclellan R, Mulliken J, et al. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations. Plast Reconstr Surg. 2016;137:77e-82e pubmed publisher..Endothelial cells in capillary malformations are enriched for GNAQ mutations and are likely responsible for the pathophysiology underlying capillary malformation. ..
- Zumbihl R, Breuiller Fouche M, Carrette J, Dufour M, Ferre F, Bockaert J, et al. Up-regulation in late pregnancy of both Go1 alpha and Go2 alpha isoforms in human myometrium. Eur J Pharmacol. 1994;288:9-15 pubmed
- Nitta K, Uchida K, Kawashima A, Tsutsui T, Ozu H, Naito T, et al. Identification of GTP-binding proteins in human glomeruli. Nihon Jinzo Gakkai Shi. 1994;36:9-12 pubmed..This is the first report that characterizes G-protein subunits in human glomeruli. Further study is required to determine the roles of G-proteins in signal transductions in human glomeruli. ..
- Lambright D, Noel J, Hamm H, Sigler P. Structural determinants for activation of the alpha-subunit of a heterotrimeric G protein. Nature. 1994;369:621-8 pubmed..The changes are distinct from those observed in other members of the GTPase superfamily. ..
- Chen C, Zheng B, Han J, Lin S. Characterization of a novel mammalian RGS protein that binds to Galpha proteins and inhibits pheromone signaling in yeast. J Biol Chem. 1997;272:8679-85 pubmed
- Grammatopoulos D, Dai Y, Randeva H, Levine M, Karteris E, Easton A, et al. A novel spliced variant of the type 1 corticotropin-releasing hormone receptor with a deletion in the seventh transmembrane domain present in the human pregnant term myometrium and fetal membranes. Mol Endocrinol. 1999;13:2189-202 pubmed..Furthermore, CRH failed to stimulate inositol trisphosphate production. Coexpression studies between the CRH-R1d or CRH-R1alpha showed that this receptor does not play a role as a dominant negative receptor for CRH. ..
- Oda T, Morikawa N, Saito Y, Masuho Y, Matsumoto S. Molecular cloning and characterization of a novel type of histamine receptor preferentially expressed in leukocytes. J Biol Chem. 2000;275:36781-6 pubmed..The discovery of the GPRv53 receptor will open a new phase of research on the physiological role of histamine. ..
- Wakasugi K, Nakano T, Morishima I. Oxidized human neuroglobin acts as a heterotrimeric Galpha protein guanine nucleotide dissociation inhibitor. J Biol Chem. 2003;278:36505-12 pubmed..In contrast, ferrous ligand-bound Ngb under normoxia did not have GDI activities. Taken together, we propose that human Ngb may be a novel oxidative stress-responsive sensor for signal transduction in the brain. ..
- Liu X, Wang J, Sun G. Identification of key genes and pathways in renal cell carcinoma through expression profiling data. Kidney Blood Press Res. 2015;40:288-97 pubmed publisher..In the modules, CAV1 and CAV2 were shown to correlate with RCC. GNAI1, GPSM2 and GNAO1 were likely involved in the regulation of RCC through G protein signal transduction...
- Kawano N, Ito T, Kitamura H, Shibagaki T, Kameda Y, Nakamura N, et al. Immunoexpression of the alpha subunit of a guanine nucleotide-binding protein (Go) in pulmonary neuroendocrine cells and neoplasms. Pathol Int. 1996;46:393-8 pubmed..The biological significance of Go alpha is unclear in normal and neoplastic lung tissues, but Go alpha is a useful marker of neuroendocrine cells and neoplasma of the lung. ..
- Valenzuela D, Han X, Mende U, Fankhauser C, Mashimo H, Huang P, et al. G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. Proc Natl Acad Sci U S A. 1997;94:1727-32 pubmed..Other cardiac G alpha subunits cannot substitute. ..
- Lin P, Le Niculescu H, Hofmeister R, McCaffery J, Jin M, Hennemann H, et al. The mammalian calcium-binding protein, nucleobindin (CALNUC), is a Golgi resident protein. J Cell Biol. 1998;141:1515-27 pubmed..The properties of CALNUC and its high homology to calreticulin suggest that it may play a key role in calcium homeostasis in the CGN and cis-Golgi cisternae. ..
- Druey K, Sullivan B, Brown D, Fischer E, Watson N, Blumer K, et al. Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane. J Biol Chem. 1998;273:18405-10 pubmed
- Malek R, Toman R, Edsall L, Wong S, Chiu J, Letterle C, et al. Nrg-1 belongs to the endothelial differentiation gene family of G protein-coupled sphingosine-1-phosphate receptors. J Biol Chem. 2001;276:5692-9 pubmed..The antiproliferative effect, like S1P-mediated ERK1/2 inhibition, was orthovanadate-sensitive and pertussis toxin-insensitive. Our results indicate that EDG-8, a member of the EDG-1 subfamily, couples to unique signaling pathways. ..
- Oliver K, Lukic V, Thorne N, Berkovic S, Scheffer I, Bahlo M. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. PLoS ONE. 2014;9:e102079 pubmed publisher..the nineteen genes that we predicted with the highest likelihood to be true Epileptic Encephalopathy genes, two (GNAO1 and GRIN2B) have recently been independently reported and confirmed...
- Ananth A, Robichaux Viehoever A, Kim Y, Hanson Kahn A, Cox R, Enns G, et al. Clinical Course of Six Children With GNAO1 Mutations Causing aÂ Severe and Distinctive Movement Disorder. Pediatr Neurol. 2016;59:81-4 pubmed publisherMutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four patients had a severe movement disorder as the prominent feature...
- Wall M, Coleman D, Lee E, Iñiguez Lluhí J, Posner B, Gilman A, et al. The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2. Cell. 1995;83:1047-58 pubmed..Repeated WD motifs in beta form a circularized sevenfold beta propeller. The conserved cores of these motifs are a scaffold for display of their more variable linkers on the exterior face of each propeller blade. ..
- Busconi L, Denker B. Analysis of the N-terminal binding domain of Go alpha. Biochem J. 1997;328 ( Pt 1):23-31 pubmed..A detailed understanding of G alpha-membrane interactions may reveal unique mechanisms for regulating signal transduction. ..
- Oldham W, Van Eps N, Preininger A, Hubbell W, Hamm H. Mechanism of the receptor-catalyzed activation of heterotrimeric G proteins. Nat Struct Mol Biol. 2006;13:772-7 pubmed..These data provide the first direct observation of R*-mediated conformational changes in G proteins and define the structural basis for GDP release from G alpha. ..
- Saitsu H, Fukai R, Ben Zeev B, Sakai Y, Mimaki M, Okamoto N, et al. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet. 2016;24:129-34 pubmed publisherDe novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy...
- Arya R, Spaeth C, Gilbert D, Leach J, Holland K. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. Epileptic Disord. 2017;19:67-75 pubmed publisherWe describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation...
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