遗传 ›› 2020, Vol. 42 ›› Issue (8): 713-724.doi: 10.16288/j.yczz.20-020
• 综述 • 下一篇
收稿日期:
2020-02-19
修回日期:
2020-04-16
出版日期:
2020-08-20
发布日期:
2020-05-19
通讯作者:
鲁雅洁
E-mail:luyajie@njmu.edu.cn
作者简介:
张敏,在读硕士研究生,专业方向:遗传学。E-mail: 基金资助:
Min Zhang, Lihong Liang, Yajie Lu(), Xin Cao
Received:
2020-02-19
Revised:
2020-04-16
Online:
2020-08-20
Published:
2020-05-19
Contact:
Lu Yajie
E-mail:luyajie@njmu.edu.cn
Supported by:
摘要:
G蛋白偶联受体(G protein-coupled receptors, GPCRs)作为最大的一类膜蛋白受体家族,可被多种配体激活并发挥相应的信号转导功能,参与生物体内重要的生理过程。G蛋白偶联受体相关分选蛋白(G protein-coupled receptors associated sorting proteins, GASPs)则对内吞后的GPCRs分选过程发挥着重要的作用,并介导受体进入降解或再循环途径,进而调控细胞的信号转导等过程。研究发现GASPs的功能缺陷与多种疾病相关,包括神经系统疾病、肿瘤和耳聋等。本文重点介绍了G蛋白偶联受体相关分选蛋白的功能特征及其相关信号通路,描述了GASPs功能缺陷与疾病的关联性及家族蛋白与GPCRs的相互作用、GASPs分选途径的发现、参与的信号通路及对基因转录调控,以期为GASPs相关多种疾病的治疗提供新的思路和策略。
张敏, 梁丽鸿, 鲁雅洁, 曹新. G蛋白偶联受体相关分选蛋白功能特征与相关疾病研究进展[J]. 遗传, 2020, 42(8): 713-724.
Min Zhang, Lihong Liang, Yajie Lu, Xin Cao. G protein-coupled receptor-associated sorting proteins: function and relevant disorders[J]. Hereditas(Beijing), 2020, 42(8): 713-724.
表1
GASPs及其相互作用伴侣"
GASPs | 别名 | 互作伴侣 | 结合位点 | 主要功能 | 参考文献 | ||
---|---|---|---|---|---|---|---|
氨基末端 | 羧基末端 | GASP基序 | |||||
GASP-1 | PIPS/KIAA0443 | GPCRs | √ | √ | 参与转运和降解 | [ | |
Period 1 | √ | √ | 与昼夜节律调控相关 | [ | |||
Gab 1 | 结合位点尚未明确 | 与生长发育相关 | [ | ||||
Microtubules | √ | √ | 维持细胞骨架相关 | [ | |||
GASP-2 | HIP15 | GPCRs | √ | √ | 参与转运和降解 | [ | |
Htt | √ | 与亨廷顿舞蹈症相关 | [ | ||||
Smoothened | √ | 参与Hedgehog信号通路 | [ | ||||
mGluR5 | √ | 与自闭症有关 | [ | ||||
GASP-3 | P60TRP/BHLHB9 | GPCRs | √ | √ | 参与转运和降解 | [ | |
PPP2R5E | 结合位点尚未明确 | 与神经元的生长调节有关 | [ | ||||
IPO5 | 结合位点尚未明确 | 与神经元的生长调节有关 | [ | ||||
GASP-5 | ARMCX5 | GPCRs | √ | √ | 参与转运和降解 | [ | |
GASP-6 | ALEX3/ARMCX3 | Sox10 | √ | 与转录有关 | [ | ||
GASP-7 | ALEX1/ARMCX1 | GPCRs | √ | 参与转运和降解 | [ | ||
PP110 | 结合位点尚未明确 | 与肿瘤的发生和发展有关 | [ | ||||
GASP-8 | SVH | P53 | √ | 与肿瘤的发生和发展有关 | [ | ||
GASP-9 | ALEX2/ARMCX2 | VIM | 结合位点尚未明确 | 维持细胞骨架相关 | [ |
[1] |
Nieto Gutierrez A, McDonald PH. GPCRs: Emerging anti-cancer drug targets. Cell Signal, 2018,41:65-74.
pmid: 28931490 |
[2] |
Edson MA, Lin YN, Matzuk MM . Deletion of the novel oocyte-enriched gene, Gpr149, leads to increased fertility in mice. Endocrinology, 2010,151(1):358-368.
doi: 10.1210/en.2009-0760 pmid: 19887567 |
[3] |
Wootten D, Christopoulos A, Sexton PM . Emerging paradigms in GPCR allostery: Implications for drug discovery. Nat Rev Drug Discov, 2013,12(8):630-644.
doi: 10.1038/nrd4052 pmid: 23903222 |
[4] |
Wang CI, Lewis RJ . Emerging opportunities for allosteric modulation of G-protein coupled receptors. Biochem Pharmacol, 2013,85(2):153-162.
doi: 10.1016/j.bcp.2012.09.001 pmid: 22975406 |
[5] |
Hanyaloglu AC, von Zastrow M . Regulation of GPCRs by endocytic membrane trafficking and its potential implications. Annu Rev Pharmacol Toxicol, 2008,48:537-568.
doi: 10.1146/annurev.pharmtox.48.113006.094830 pmid: 18184106 |
[6] |
West AE, Griffith EC, Greenberg ME . Regulation of transcription factors by neuronal activity. Nat Rev Neurosci, 2002,3(12):921-931.
doi: 10.1038/nrn987 pmid: 12461549 |
[7] | Moser E, Kargl J, Whistler JL, Waldhoer M, Tschische P . G protein-coupled receptor-associated sorting protein 1 regulates the postendocytic sorting of seven-transmembrane-spanning G protein-coupled receptors. Pharmacology, 2010,86(1):22-29. |
[8] | Ji BY, Chen J, Bai B . Research progress of G protein coupled receptor-related sorting proteins. J Jining Med Univ, 2013,36(04):287-291. |
季丙元, 陈京, 白波 . G蛋白偶联受体相关分选蛋白研究进展. 济宁医学院学报, 2013,36(04):287-291. | |
[9] |
Charfi I, Abdallah K, Gendron L, Pineyro G . Delta opioid receptors recycle to the membrane after sorting to the degradation path. Cell Mol Life Sci, 2018,75(12):2257-2271.
pmid: 29288293 |
[10] |
Jung B, Messias AC, Schorpp K, Geerlof A, Schneider G, Saur D, Hadian K, Sattler M, Wanker EE, Hasenöder S, Lickert H . Novel small molecules targeting ciliary transport of Smoothened and oncogenic Hedgehog pathway activation. Sci Rep, 2016,6:22540.
doi: 10.1038/srep22540 pmid: 26931153 |
[11] |
Flor PJ, Acher FC . Orthosteric versus allosteric GPCR activation: The great challenge of group-III mGluRs. Biochem Pharmacol, 2012,84(4):414-424.
doi: 10.1016/j.bcp.2012.04.013 pmid: 22554564 |
[12] |
Herraiz C, Journé F, Abdel-Malek Z, Ghanem G, Jiménez-Cervantes C, García-Borrón JC . Signaling from the human melanocortin 1 receptor to ERK1 and ERK2 mitogen-activated protein kinases involves transactivation of cKIT. Mol Endocrinol, 2011,25(1):138-156.
doi: 10.1210/me.2010-0217 pmid: 21084381 |
[13] | Bassilana F, Nash M, Ludwig MG . Adhesion G protein-coupled receptors: opportunities for drug discovery. Nat Rev Drug Discov, 2019,18(11):869-884. |
[14] |
Vassilatis DK, Hohmann JG, Zeng H, Li F, Ranchalis JE, Mortrud MT, Brown A, Rodriguez SS, Weller JR , WrightAC, Bergmann JE, Gaitanaris GA. The G protein-coupled receptor repertoires of human and mouse. Proc Natl Acad Sci USA, 2003,100(8):4903-4908.
doi: 10.1073/pnas.0230374100 pmid: 12679517 |
[15] |
Dal Prà I, Armato U, Chiarini A . Family C G-protein- coupled receptors in Alzheimer’s Disease and therapeutic implications. Front Pharmacol, 2019,10:1282.
doi: 10.3389/fphar.2019.01282 pmid: 31719824 |
[16] |
Wang JL, Gareri C, Rockman HA . G protein-coupled receptors in heart disease. Circ Res, 2018,123(6):716-735.
doi: 10.1161/CIRCRESAHA.118.311403 pmid: 30355236 |
[17] |
Alfonso-Prieto M, Giorgetti A, Carloni P . Multiscale simulations on human Frizzled and Taste2 GPCRs. Curr Opin Struct Biol, 2019,55:8-16.
doi: 10.1016/j.sbi.2019.02.009 pmid: 30933747 |
[18] | Routledge SJ, Simms J, Clark A, Yeung HY, Wigglesworth MJ, Dickerson IM, Kitchen P, Ladds G, Poyner DR . Receptor component protein, an endogenous allosteric modulator of family B G protein coupled receptors. Biochim Biophys Acta Biomembr, 2019,27:183174. |
[19] | Zhang XR, Zhang ZR, Chen SY, Wang WW, Wang XS, He JC, Xie CL . β-arrestin2 alleviates L-dopa-induced dyskinesia via lower D1R activity in Parkinson's rats. Aging (Albany NY), 2019,11(24):12315-12327. |
[20] |
Rodríguez CI, Setaluri V . Cyclic AMP (cAMP) signaling in melanocytes and melanoma. Arch Biochem Biophys, 2014,563:22-27.
pmid: 25017568 |
[21] |
Archbold JK, Martin JL, Sweet MJ . Towards selective lysophospholipid GPCR modulators. Trends Pharmacol Sci, 2014,35(5):219-226.
doi: 10.1016/j.tips.2014.03.004 pmid: 24746475 |
[22] |
Ishii S, Shimizu T . Platelet-activating factor (PAF) receptor and genetically engineered PAF receptor mutant mice. Prog Lipid Res, 2000,39(1):41-82.
doi: 10.1016/s0163-7827(99)00016-8 pmid: 10729607 |
[23] |
Rayasam GV, Tulasi VK, Davis JA, Bansal VS . Fatty acid receptors as new therapeutic targets for diabetes. Expert Opin Ther Targets, 2007,11(5):661-671.
doi: 10.1517/14728222.11.5.661 pmid: 17465724 |
[24] |
Violin JD, Lefkowitz RJ . β-arrestin-biased ligands at seven-transmembrane receptors. Trends Pharmacol Sci, 2007,28(8):416-422.
doi: 10.1016/j.tips.2007.06.006 pmid: 17644195 |
[25] |
Whistler JL, Enquist J, Marley A, Fong J, Gladher F, Tsuruda P, Murray SR, Von Zastrow M . Modulation of postendocytic sorting of G protein-coupled receptors. Science, 2002,297(5581):615-620.
doi: 10.1126/science.1073308 pmid: 12142540 |
[26] |
Heydorn A, Jacky BPS, Ersbøll B, Holst B, Nielsen FC, Haft CR, Whistler J, Schwartz TW . A library of 7TM receptor C-terminal tails. Interactions with the proposed post-endocytic sorting proteins ERM-binding phosphoprotein 50 (EBP50), N-ethylmaleimide-sensitive factor (NSF), sorting nexin 1 (SNX1), and G protein-coupled receptor-associated sorting protein (GASP). J Biol Chem, 2004,279(52):54291-54303.
pmid: 15452121 |
[27] |
Abu-Helo A, Simonin F . Identification and biological significance of G protein-coupled receptor associated sorting proteins (GASPs). Pharmacol Ther, 2010,126(3):244-250.
doi: 10.1016/j.pharmthera.2010.03.004 pmid: 20394773 |
[28] |
Bornert O, Møller T C, Boeuf J, Candusso MP, Wagner R, Martinez KL, Simonin F . Identification of a novel protein-protein interaction motif mediating interaction of GPCR-associated sorting proteins with G protein-coupled receptors. PLoS One, 2013,8(2):e56336.
doi: 10.1371/journal.pone.0056336 pmid: 23441177 |
[29] |
Kurochkin IV, Yonemitsu N, Funahashi SI, Nomura H . ALEX1, a novel human armadillo repeat protein that is expressed differentially in normal tissues and carcinomas. Biochem Biophys Res Commun, 2001,280(1):340-347.
doi: 10.1006/bbrc.2000.4125 pmid: 11162520 |
[30] |
Simonin F, Karcher P, Julien JM, Matifas A, Kieffer BL . Identification of a novel family of G protein-coupled receptor associated sorting proteins. J Neurochem, 2004,89(3):766-775.
doi: 10.1111/j.1471-4159.2004.02411.x pmid: 15086532 |
[31] |
Kiyama A, Isojima Y, Nagai K . Role of Per1-interacting protein of the suprachiasmatic nucleus in NGF mediated neuronal survival. Biochem Biophys Res Commun, 2006,339(2):514-519.
doi: 10.1016/j.bbrc.2005.11.036 pmid: 16298334 |
[32] |
Sakamoto T, Uezu A, Kawauchi S, Kuramoto T, Makino K, Umeda K, Araki N, Baba H, Nakanishi H . Mass spectrometric analysis of microtubule co-sedimented proteins from rat brain. Genes Cells, 2008,13(4):295-312.
doi: 10.1111/j.1365-2443.2008.01175.x pmid: 18363962 |
[33] |
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig AH, Büssow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG, Lehrach H, Wanker EE . A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Mol Cell, 2004,15(6):853-865.
doi: 10.1016/j.molcel.2004.09.016 pmid: 15383276 |
[34] |
Thompson D, Pusch M, Whistler JL . Changes in G protein-coupled receptor sorting protein affinity regulate postendocytic targeting of G protein-coupled receptors. J Biol Chem, 2007,282(40):29178-29185.
pmid: 17635908 |
[35] |
Cai ZZ, Xu JG, Zhou YH, Zheng JH, Lin KZ, Zheng SZ, Ye MS, He Y, Liu CB, Xue ZX . Human cytomegalovirus-encoded US28 may act as a tumor promoter in colorectal cancer. World J Gastroenterol, 2016, ( 9):2789-2798.
pmid: 26973417 |
[36] |
Tschische P, Moser E, Thompson D, Vischer HF, Parzmair GP, Pommer V, Platzer W, Schwarzbraun T, Schaider H, Smit MJ, Martini L, Whistler JL, Waldhoer M . The G-proteincoupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28. Traffic, 2010,11(5):660-674.
doi: 10.1111/j.1600-0854.2010.1045.x pmid: 20102549 |
[37] |
Huang R, Xing Z, Luan Z, Wu T, Hu G . A specific splicing variant of SVH, a novel human armadillo repeat protein, is up-regulated in hepatocellular carcinomas. Cancer Res, 2003,63(13):3775-3782.
pmid: 12839973 |
[38] |
Matsuki T, Kiyama A, Kawabuchi M, Okada M, Nagai K . A novel protein interacts with a clock-related protein, rPer. Brain Res, 2001,916(1-2):1-10.
doi: 10.1016/s0006-8993(01)02857-8 pmid: 11597585 |
[39] |
Kiyama A, Isojima Y, Nagai K . Role of Per1-interacting protein of the suprachiasmatic nucleus in NGF mediated neuronal survival. Biochem Biophys Res Commun, 2006,339(2):514-519.
doi: 10.1016/j.bbrc.2005.11.036 pmid: 16298334 |
[40] | Horn SC, Lalowski M, Goehler H, Dröge A, Wanker EE, Stelzl U . Huntingtin interacts with the receptor sorting family protein GASP2. J Neural Transm (Vienna), 2006,113(8):1081-1090. |
[41] |
Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, Messias AC, Geerlof A, Sattler M, Kremmer E, Boldt K, Ueffing M, Lickert H . Pitchfork and Gprasp2 target Smoothened to the primary cilium for Hedgehog pathway activation. PLoS One, 2016,11(2):e0149477.
doi: 10.1371/journal.pone.0149477 pmid: 26901434 |
[42] |
Edfawy M, Guedes JR, Pereira MI, Laranjo M, Carvalho MJ, Gao X, Ferreira PA, Caldeira G, Franco LO, Wang D, Cardoso AL, Feng G, Carvalho AL, Peça J . Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice. Nat Commun, 2019,10(1):1431.
doi: 10.1038/s41467-019-09382-9 pmid: 30926797 |
[43] |
Heese K, Yamada T, Akatsu H, Yamamoto T, Kosaka K, Nagai Y, Sawada T . Characterizing the new transcription regulator protein p60TRP. J Cell Biochem, 2004,91(5):1030-1042.
pmid: 15034937 |
[44] |
Mou Z, Tapper AR, Gardner PD . The armadillo repeat-containing protein, ARMCX 3, physically and functionally interacts with the developmental regulatory factor Sox10. J Biol Chem, 2009,284(20):13629-13640.
doi: 10.1074/jbc.M901177200 pmid: 19304657 |
[45] |
Santini F, Gaidarov I, Keen JH . G protein-coupled receptor/arrestin3 modulation of the endocytic machinery. J Cell Biol, 2002,156(4):665-676.
doi: 10.1083/jcb.200110132 pmid: 11839771 |
[46] |
Marchese A, Benovic JL . Agonist-promoted ubiquitination of the G protein-coupled receptor CXCR4 mediates lysosomal sorting. J Biol Chem, 2001,276(49):45509-45512.
doi: 10.1074/jbc.C100527200 pmid: 11641392 |
[47] |
Mukhopadhyay D, Riezman H . Proteasome-independent functions of ubiquitin in endocytosis and signaling. Science, 2007,315(5809):201-205.
doi: 10.1126/science.1127085 pmid: 17218518 |
[48] |
Tsao P, Cao T, von Zastrow M. Role of endocytosis in mediating downregulation of G-protein-coupled receptors. Trends Pharmacol Sci, 2001,22(2):91-96.
doi: 10.1016/s0165-6147(00)01620-5 pmid: 11166853 |
[49] |
Hanyaloglu AC, von Zastrow M . A novel sorting sequence in the β2-adrenergic receptor switches recycling from default to the Hrs-dependent mechanism. J Biol Chem, 2007,282(5):3095-3104.
doi: 10.1074/jbc.M605398200 pmid: 17138565 |
[50] |
Cho DI, Zheng M, Min C, Kwon KJ, Shin CY, Choi HK, Kim KM . ARF6 and GASP-1 are post-endocytic sorting proteins selectively involved in the intracellular trafficking of dopamine D2 receptors mediated by GRK and PKC in transfected cells. Br J Pharmacol, 2013,168(6):1355-1374.
doi: 10.1111/bph.12025 pmid: 23082996 |
[51] |
Thompson D, Whistler JL. Dopamine D(3) receptors are down-regulated following heterologous endocytosis by a specific-interaction with G protein-coupled receptor-associated sorting protein-1. J Biol Chem, 2011,286(2):1598-1608.
doi: 10.1074/jbc.M110.158345 pmid: 21030592 |
[52] |
Conquet F, Bashir ZI, Davies CH, Daniel H, Ferraguti F, Bordi F, Franz-Bacon K, Reggiani A, Matarese V, Condé F . Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. Nature, 1994,372(6503):237-243.
doi: 10.1038/372237a0 pmid: 7969468 |
[53] |
Kelly L, Farrant M, Cull-Candy SG . Synaptic mGluR activation drives plasticity of calcium-permeable AMPA receptors. Nat Neurosci, 2009,12(5):593-601.
doi: 10.1038/nn.2309 pmid: 19377472 |
[54] |
Huber KM, Kayser MS, Bear M F . Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression. Science, 2000,288(5469):1254-1257.
doi: 10.1126/science.288.5469.1254 |
[55] |
Snyder EM, Philpot BD, Huber KM, Dong X, Fallon JR, Bear MF . Internalization of ionotropic glutamate receptors in response to mGluR activation. Nat Neurosci, 2001,4(11):1079-1085.
doi: 10.1038/nn746 pmid: 11687813 |
[56] |
Oh WC, Hill TC, Zito K . Synapse-specific and size-dependent mechanisms of spine structural plasticity accompanying synaptic weakening. Proc Natl Acad Sci USA, 2013,110(4):E305-E312.
doi: 10.1073/pnas.1214705110 pmid: 23269840 |
[57] |
Mion S, Corti C, Neki A, Shigemoto R, Corsi M, Fumagalli G, Ferraguti F . Bidirectional regulation of neurite elaboration by alternatively spliced metabotropic glutamate receptor 5 (mGluR5) isoforms. Mol Cell Neurosci, 2001,17(6):957-972.
doi: 10.1006/mcne.2001.0993 pmid: 11414786 |
[58] |
Carballo GB, Honorato JR, de Lopes GPF, Spohr TCLSE. A highlight on Sonic hedgehog pathway. Cell Commun Signal, 2018,16(1):11.
doi: 10.1186/s12964-018-0220-7 pmid: 29558958 |
[59] |
Goetz SC, Anderson KV . The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet, 2010,11(5):331-344.
doi: 10.1038/nrg2774 pmid: 20395968 |
[60] |
Lee H, Ko HW . Ciliary smoothened-mediated noncanonical hedgehog signaling promotes tubulin acetylation. Biochem Biophys Res Commun, 2016,480(4):574-579.
doi: 10.1016/j.bbrc.2016.10.093 pmid: 27793670 |
[61] |
Karg J, Balenga NA, Platzer W, Martini L, Whistler JL, Waldhoer M . The GPCR-associated sorting protein 1 regulates ligand-induced down-regulation of GPR55. Br J Pharmacol, 2012,165(8):2611-2619.
doi: 10.1111/j.1476-5381.2011.01562.x pmid: 21718301 |
[62] |
Hirata Y, Enoki R, Kuribayashi-Shigetomi K, Oda Y, Honma S, Honma KI . Circadian rhythms in Per1, PER2 and Ca 2+ of a solitary SCN neuron cultured on a microisland . Sci Rep, 2019,9(1):18271.
doi: 10.1038/s41598-019-54654-5 pmid: 31797953 |
[63] |
Zhou XY, Yang GH, Huang RM, Chen XT, Hu GX . SVH-B interacts directly with p53 and suppresses the transcriptional activity of p53. FEBS Lett, 2007,581(25):4943-4948.
doi: 10.1016/j.febslet.2007.09.025 pmid: 17904127 |
[64] |
Tuszynski GP, Rothman VL, Zheng XY, Gutu M, Zhang XM, Chang F . G-protein coupled receptor-associated sorting protein 1 (GASP-1), a potential biomarker in breast cancer. Exp Mol Pathol, 2011,91(2):608-613.
doi: 10.1016/j.yexmp.2011.06.015 pmid: 21791203 |
[65] |
Furuta J, Nobeyama Y, Umebayashi Y, Otsuka F, Kikuchi K, Ushijima T . Silencing of peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas. Cancer Res, 2006,66(12):6080-6086.
doi: 10.1158/0008-5472.CAN-06-0157 pmid: 16778180 |
[66] |
Jacinto FV, Ballestar E, Ropero S, Esteller M . Discovery of epigenetically silenced genes by methylated DNA immunoprecipitation in colon cancer cells. Cancer Res, 2007,67(24):11481-11486.
doi: 10.1158/0008-5472.CAN-07-2687 pmid: 18089774 |
[67] |
Rickman DS, Millon R, De Reynies A, Thomas E, Wasylyk C, Muller D, Abecassis J, Wasylyk B . Prediction of future metastasis and molecular characterization of head and neck squamous-cell carcinoma based on transcriptome and genome analysis by microarrays. Oncogene, 2008,27(51):6607-6622.
doi: 10.1038/onc.2008.251 pmid: 18679425 |
[68] | Kris SR, Jin VX, Bieda MC, O'Geen H, Yaswen P, Green R, Farnham PJ. Identification of genes directly regulated by the oncogene ZNF217 using ChIP-chip assays. J BiolChem, 2007,282(13):9703-9712. |
[69] | Jakubík J, El-Fakahany EE . Allosteric modulation of muscarinic acetylcholine receptors. Pharmaceuticals (Basel), 2010,3(9):2838-2860. |
[70] | Cattaneo E, Zuccato C, Tartari M . Normal huntingtin function: an alternative approach to Huntington's disease. Nat Rev Neuro Sci, 2005,69(12):919-930. |
[71] |
Cao Y, Aypar U . A novel Xq22.1 deletion in a male with multiple congenital abnormalities and respiratory failure. Eur J Med Genet, 2016,59(5):274-277.
doi: 10.1016/j.ejmg.2016.03.004 pmid: 26995686 |
[72] |
Moran LB, Graeber MB . Towards a pathway definition of Parkinson’s disease: a complex disorder with links to cancer, diabetes and inflammation. Neurogenetics, 2008,9(1):1-13.
doi: 10.1007/s10048-007-0116-y pmid: 18196299 |
[73] |
Sun JP, Li R, Ren HZ, Xu AT, Yu X, Xu ZG . The very large G protein coupled receptor (Vlgr1) in hair cells. J Mol Neurosci, 2013,50(1):204-214.
doi: 10.1007/s12031-012-9911-5 pmid: 23180093 |
[74] |
Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ . Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet, 2004,74(2):357-366.
doi: 10.1086/381685 pmid: 14740321 |
[75] |
Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ . GPR98 mutations cause Usher syndrome type 2 in males. J Med Genet, 2009,46(4):277-280.
doi: 10.1136/jmg.2008.059626 pmid: 19357117 |
[76] |
Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C . Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci, 2007,27(24):6478-6488.
doi: 10.1523/JNEUROSCI.0342-07.2007 pmid: 17567809 |
[77] |
Chen Y, Lu XL, Guo L, Ni WL, Zhang YP, Zhao LP, Wu LJ, Sun S, Zhang SS, Tang ML, Li WY, Chai RJ, Li HW . Hedgehog signaling promotes the proliferation and subsequent hair cell formation of progenitor cells in the neonatal mouse cochlea. Front Mol Neurosci, 2017,10:426.
doi: 10.3389/fnmol.2017.00426 pmid: 29311816 |
[78] | Xing GQ, Yao J, Liu CY, Wei QJ, Qian XL, Wu LX, Lu YJ, Cao X . GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. J Med Geneti, 2017,54(6):426-430. |
[79] |
Liu C, Lin C, Yao J, Wei Q, Xing G, Cao X . Dynamic expression analysis of armc10, the homologous gene of human GPRASP2, in zebrafish embryos. Mol Med Rep, 2017,16(5):5931-5937.
doi: 10.3892/mmr.2017.7357 pmid: 28849214 |
[80] | Li FF, Li WQ, Jing Q . G protein-coupled receptors in vascular development. Hereditas(Beijing), 2013,35(4):459-467. |
李方方, 李文庆, 荆清 . G蛋白偶联受体在血管发育中的作用. 遗传, 2013,35(4):459-467. | |
[81] | Zhang BL, Gao DS, Xu YX . G protein-coupled receptor 3: a key factor in the regulation of the nervous system and follicle development. Hereditas(Beijing), 2013,35(5):578-586. |
张宝乐, 高殿帅, 徐银学 . G蛋白偶联受体3:调控神经系统和卵泡发育的关键因子. 遗传, 2013,35(5):578-586. |
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