Page 94 - Read Online

Heinzer et al. J Transl Genet Genom 2024;8:1-12 https://dx.doi.org/10.20517/jtgg.2023.39 Page 11

[Last accessed on 4 Jan 2024].
20. Chemin J, Siquier-Pernet K, Nicouleau M, et al. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-
function mutations in the CACNA1G calcium channel gene. Brain 2018;141:1998-2013. DOI
21. Paul MS, Limaiem F. Histology, purkinje cells. Available from: https://www.ncbi.nlm.nih.gov/books/NBK545154/ [Last accessed on
4 Jan 2024].
22. Huang YF, Zhang Z, Zhang M, et al. CUL1 promotes breast cancer metastasis through regulating EZH2-induced the autocrine
expression of the cytokines CXCL8 and IL11. Cell Death Dis 2018;10:2. DOI PubMed PMC
23. Chen G, Li G. Increased Cul1 expression promotes melanoma cell proliferation through regulating p27 expression. Int J Oncol
2010;37:1339-44. DOI
24. Michail O, Moris D, Theocharis S, Griniatsos J. Cullin-1 and -2 protein expression in colorectal cancer: correlation with
clinicopathological variables. In Vivo 2018;32:391-6. DOI PubMed PMC
25. Zhou W, Wei W, Sun Y. Genetically engineered mouse models for functional studies of SKP1-CUL1-F-box-protein (SCF) E3
ubiquitin ligases. Cell Res 2013;23:599-619. DOI PubMed PMC
26. Bachiller S, Rybkina T, Porras-García E, et al. The HERC1 E3 ubiquitin ligase is essential for normal development and for
neurotransmission at the mouse neuromuscular junction. Cell Mol Life Sci 2015;72:2961-71. DOI
27. Yang Y, Zhou X, Liu X, Song R, Gao Y, Wang S. Implications of FBXW7 in neurodevelopment and neurodegeneration: molecular
mechanisms and therapeutic potential. Front Cell Neurosci 2021;15:736008. DOI PubMed PMC
28. Davies B, Brown LA, Cais O, et al; WGS500 Consortium. A point mutation in the ion conduction pore of AMPA receptor GRIA3
causes dramatically perturbed sleep patterns as well as intellectual disability. Hum Mol Genet 2017;26:3869-82. DOI PubMed PMC
29. Sumi T, Harada K. Mechanism underlying hippocampal long-term potentiation and depression based on competition between
endocytosis and exocytosis of AMPA receptors. Sci Rep 2020;10:14711. DOI PubMed PMC
30. Antunes FM, Rubio ME, Kandler K. Role of GluA3 AMPA receptor subunits in the presynaptic and postsynaptic maturation of
synaptic transmission and plasticity of endbulb-bushy cell synapses in the cochlear nucleus. J Neurosci 2020;40:2471. DOI PubMed
PMC
31. Park YH, Broyles HV, He S, McGrady NR, Li L, Yorio T. Involvement of AMPA receptor and its flip and flop isoforms in retinal
ganglion cell death following oxygen/glucose deprivation. Invest Ophthalmol Vis Sci 2016;57:508-26. DOI PubMed
32. Trivisano M, Santarone ME, Micalizzi A, et al. GRIA3 missense mutation is cause of an X-linked developmental and epileptic
encephalopathy. Seizure 2020;82:1-6. DOI
33. Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM. Distinct roles of GRIN2A and GRIN2B variants in neurological
conditions. F1000Res 2019;8:1940. DOI PubMed PMC
34. Nakazawa K, Sapkota K. The origin of NMDA receptor hypofunction in schizophrenia. Pharmacol Ther 2020;205:107426. DOI
PubMed PMC
35. Poltavskaya EG, Fedorenko OY, Kornetova EG, et al. Study of early onset schizophrenia: associations of GRIN2A and GRIN2B
polymorphisms. Life 2021;11:997. DOI PubMed PMC
36. Garcia-Gonzalo FR, Bartrons R, Ventura F, Rosa JL. Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated
guanine nucleotide release from ARF proteins. FEBS Lett 2005;579:343-8. DOI PubMed
37. Pedrazza L, Schneider T, Bartrons R, Ventura F, Rosa JL. The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent
regulation of MKK3/p38 signaling. Sci Rep 2020;10:824. DOI PubMed PMC
38. Pérez-Villegas EM, Pérez-Rodríguez M, Negrete-Díaz JV, et al. HERC1 ubiquitin ligase is required for hippocampal learning and
memory. Front Neuroanat 2020;14:592797. DOI PubMed PMC
39. Lalonde R, Strazielle C. The Herc1 gene in neurobiology. Gene 2022;814:146144. DOI PubMed
40. Wang C, Liang CC, Bian ZC, Zhu Y, Guan JL. FIP200 is required for maintenance and differentiation of postnatal neural stem cells.
Nat Neurosci 2013;16:532-42. DOI PubMed PMC
41. Ikebuchi K, Chano T, Ochi Y, et al. RB1CC1 activates the promoter and expression of RB1 in human cancer. Int J Cancer
2009;125:861-7. DOI
42. Guo A, Lun P, Chen J, et al. Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han
population. Psychiatr Genet 2022;32:188-93. DOI
43. Zhou X, Nie Z, Roberts A, et al. Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of
human psychiatric disorders. Hum Mol Genet 2010;19:3797-805. DOI PubMed PMC
44. Zhang Q, Huo JH, Guo L, Wang L, Wang C, Li M. Common and rare variants within SP4 exert distinct molecular mechanisms
contributing to the risk of schizophrenia. Psychiatry Res 2022;318:114948. DOI
45. Zhou X, Tang W, Greenwood TA, et al. Transcription factor SP4 is a susceptibility gene for bipolar disorder. PLoS One 2009;4:e5196.
DOI PubMed PMC
46. Wei C, Sun M, Sun X, et al. RhoGEF trio regulates radial migration of projection neurons via its distinct domains. Neurosci Bull
2022;38:249-62. DOI PubMed PMC
47. Tao T, Sun J, Peng Y, et al. Golgi-resident TRIO regulates membrane trafficking during neurite outgrowth. J Biol Chem
2019;294:10954-68. DOI PubMed PMC
48. Sadybekov A, Tian C, Arnesano C, Katritch V, Herring BE. An autism spectrum disorder-related de novo mutation hotspot discovered
in the GEF1 domain of Trio. Nat Commun 2017;8:601. DOI PubMed PMC