Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia

References

• Kay SR. Significance of the positive-negative distinction in schizophrenia. Schizophr Bull. 1990;16:635–652.
   PubMed Web of Science ®Google Scholar
• Millan MJ, Fone K, Steckler T, Horan WP. Negative symptoms of schizophrenia: clinical characteristics, pathophysiological substrates, experimental models and prospects for improved treatment. Eur Neuropsychopharmacol. 2014;24:645–692. doi:10.1016/j.euroneuro.2014.03.008
   PubMed Web of Science ®Google Scholar
• Giegling I, Hosak L, Mössner R, et al. Genetics of schizophrenia: a consensus paper of the WFSBP task force on genetics. World J Biol Psychiatry. 2017;18:492–505. doi:10.1080/15622975.2016.1268715
   PubMed Web of Science ®Google Scholar
• Rietschel M, Mattheisen M, Degenhardt F, et al. Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe. Mol Psychiatry. 2012;17:906–917. doi:10.1038/mp.2011.80
   PubMed Web of Science ®Google Scholar
• Felder CC, Porter AC, Skillman TL, et al. Elucidating the role of muscarinic receptors in psychosis. Life Sci. 2001;68:2605–2613. doi:10.1016/S0024-3205(01)01059-1
   PubMed Web of Science ®Google Scholar
• Crook JM, Tomaskovic-Crook E, Copolov DL, Dean B. Decreased muscarinic receptor binding in subjects with schizophrenia: a study of the human hippocampal formation. Biol Psychiatry. 2000;48:381–388. doi:10.1016/S0006-3223(00)00918-5
   PubMed Web of Science ®Google Scholar
• Scarr E, Sundram S, Keriakous D, Dean B. Altered hippocampal muscarinic M4, but not M1, receptor expression from subjects with schizophrenia. Biol Psychiatry. 2007;61:1161–1170. doi:10.1016/j.biopsych.2006.08.050
   PubMed Web of Science ®Google Scholar
• Haga T. Molecular properties of muscarinic acetylcholine receptors. Proc Jpn Acad Ser B Phys Biol Sci. 2013;2013(89):226–256. doi:10.2183/pjab.89.226
   Web of Science ®Google Scholar
• Bonner TI. The molecular basis of muscarinic receptor diversity. Trends Neurosci. 1989;12:148–151. doi:10.1016/0166-2236(89)90054-4
   PubMed Web of Science ®Google Scholar
• Michel MC, Teitsma CA. Polymorphisms in human muscarinic receptor subtype genes. Handb Exp Pharmacol. 2012;208:49–59.
   Google Scholar
• Lin HH. G-protein-coupled receptors and their (Bio) chemical significance win 2012 nobel prize in chemistry. Biomed J. 2013;36:118–124. doi:10.4103/2319-4170.113233
   Google Scholar
• Stevens RC, Cherezov V, Katritch V, et al. The GPCR network: a large-scale collaboration to determine human GPCR structure and function. Nat Rev Drug Discov. 2013;12:25–34. doi:10.1038/nrd3859
   PubMed Web of Science ®Google Scholar
• Goldberg JA, Ding JB, Surmeier DJ. Muscarinic modulation of striatal function and circuitry. Handb Exp Pharmacol. 2012;208:223–241.
   Google Scholar
• Lebois EP, Thorn C, Edgerton JR, Popiolek M, Xi S. Muscarinic receptor subtype distribution in the central nervous system and relevance to aging and Alzheimer’s disease. Neuropharmacology. 2018;136(Pt C):362–373. doi:10.1016/j.neuropharm.2017.11.018
   PubMed Web of Science ®Google Scholar
• Santiago MP, Potter LT. Biotinylated m4-toxin demonstrates more M4 muscarinic receptor protein on direct than indirect striatal projection neurons. Brain Res. 2001;894:12–20. doi:10.1016/S0006-8993(00)03170-X
   PubMed Web of Science ®Google Scholar
• Scarr E, Um JY, Cowie TF, Dean B. Cholinergic muscarinic M4 receptor gene polymorphisms: a potential risk factor and pharmacogenomic marker for schizophrenia. Schizophr Res. 2013;146:279–284. doi:10.1016/j.schres.2013.01.023
   PubMed Web of Science ®Google Scholar
• Boiko AS, Ivanova SA, Pozhidaev IV, et al. Pharmacogenetics of tardive dyskinesia in schizophrenia: the role of CHRM1 and CHRM2 muscarinic receptors. World J Biol Psychiatry. 2019;9:1–6. doi:10.1080/15622975.2018.1548780
   Web of Science ®Google Scholar
• Loonen AJM, van Praag HM. Measuring movement disorders in antipsychotic drug trials: the need to define a new standard. J Clin Psychopharmacol. 2007;27:423–430. doi:10.1097/jcp.0b013e31814f1105
   PubMed Web of Science ®Google Scholar
• Loonen AJM, Doorschot CH, van Hemert DA, Oostelbos MC, Sijben AE. The Schedule for the Assessment of Drug-Induced Movement Disorders (SADIMoD): test-retest reliability and concurrent validity. Int J Neuropsychopharmcol. 2000;3:285–296. doi:10.1017/S1461145700002066
   PubMed Web of Science ®Google Scholar
• Loonen AJM, Doorschot CH, van Hemert DA, Oostelbos MC, Sijben AE. The schedule for the assessment of drug-induced movement disorders (SADIMoD): inter-rater reliability and construct validity. Int J Neuropsychopharmacol. 2001;4:347–360. doi:10.1017/S1461145701002589
   PubMed Web of Science ®Google Scholar
• Schooler NR, Kane JM. Research diagnoses for tardive dyskinesia. Arch Gen Psychiatry. 1982;39:486–487. doi:10.1001/archpsyc.1982.04290040080014
   PubMed Web of Science ®Google Scholar
• Andreasen NC, Pressler M, Nopoulos P, Miller D, Ho BC. Antipsychotic dose equivalents and dose-years: a standardized method for comparing exposure to different drugs. Biol Psychiatry. 2010;67:255–262. doi:10.1016/j.biopsych.2009.08.040
   PubMed Web of Science ®Google Scholar
• Meltzer HY, Alphs L, Green AI, et al. Clozapine treatment for suicidality in schizophrenia: international suicide prevention Trial (InterSePT). Arch Gen Psychiatry. 2003;60:82–91. doi:10.1001/archpsyc.60.1.82
   PubMed Web of Science ®Google Scholar
• Michal P, Lysíková M, El-Fakahany EE, Tucek S. Clozapine interaction with the M2 and M4 subtypes of muscarinic receptors. Eur J Pharmacol. 1999;376:119–125. doi:10.1016/S0014-2999(99)00341-6
   Web of Science ®Google Scholar
• Van Enkhuizen J, Janowsky DS, Olivier B, et al. The catecholaminergic-cholinergic balance hypothesis of bipolar disorder revisited. Eur J Pharmacol. 2015;753:114–126. doi:10.1016/j.ejphar.2014.05.063
   PubMed Web of Science ®Google Scholar
• Loonen AJM, Kupka RW, Ivanova SA. Circuits regulating pleasure and happiness in bipolar disorder. Front Neural Circuits. 2017;11:35. doi:10.3389/fncir.2017.00035
   Web of Science ®Google Scholar
• Loonen AJM, Ivanova SA. New insights into the mechanism of drug-induced dyskinesia. CNS Spectr. 2013;18:15–20. doi:10.1017/S1092852912000752
   PubMed Web of Science ®Google Scholar
• Kapur S. Psychosis as a state of aberrant salience: a framework linking biology, phenomenology, and pharmacology in schizophrenia. Am J Psychiatry. 2003;160:13–23. doi:10.1176/appi.ajp.160.1.13
   PubMed Web of Science ®Google Scholar
• Howes OD, Kapur S. The dopamine hypothesis of schizophrenia: version III–the final common pathway. Schizophr Bull. 2009;35:549–562. doi:10.1093/schbul/sbp006
   PubMed Web of Science ®Google Scholar
• Loonen AJM, Ivanova SA. Circuits regulating pleasure and happiness in schizophrenia: the neurobiological mechanism of delusion. In: Shen YC, editor. Schizophrenia Treatment - the New Facets. Rijeka, Croatia: Intech; 2016:109–134.
   Google Scholar
• Heilbronner SR, Rodriguez-Romaguera J, Quirk GJ, Groenewegen HJ, Haber SN. Circuit-based corticostriatal homologies between rat and primate. Biol Psychiatry. 2016;80:509–521. doi:10.1016/j.biopsych.2016.05.012
   Web of Science ®Google Scholar
• Loonen AJM, Ivanova SA. Circuits regulating pleasure and happiness: the evolution of the amygdalar-hippocampal-habenular connectivity in vertebrates. Front Neurosci. 2016;10:539. doi:10.3389/fnins.2016.00539
   Web of Science ®Google Scholar
• Modregger J, Ritter B, Witter B, Paulsson M, Plomann M. All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. J Cell Sci. 2000;113:4511–4521.
   PubMed Web of Science ®Google Scholar
• Sumoy L, Pluvinet R, Andreu N, Estivill X, Escarceller M. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. Gene. 2001;262:199–205. doi:10.1016/S0378-1119(00)00531-X
   PubMed Web of Science ®Google Scholar
• Edeling MA, Sanker S, Shima T, et al. Structural requirements for PACSIN/Syndapin operation during zebrafish embryonic notochord development. PLoS One. 2009;4(12):e8150. doi:10.1371/journal.pone.0008150
   Web of Science ®Google Scholar
• Koch D, Spiwoks-Becker I, Sabanov V. Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. EMBO J. 2011;30:4955–4969. doi:10.1038/emboj.2011.339
   Web of Science ®Google Scholar
• Nakajima J, Okamoto N, Tohyama J, et al. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet. 2015;87(4):356–361. doi:10.1111/cge.12394
   Web of Science ®Google Scholar
• De Rinaldis M, Giorda R, Trabacca A. Mild epileptic phenotype associates with de novo eef1a2 mutation: case report and review. Brain Dev. 2020;42(1):77–82. doi:10.1016/j.braindev.2019.08.001
   Web of Science ®Google Scholar