NF1 copy number variation syndrome (WP5366)

Homo sapiens

Authors

Ninagerrekens , Friederike Ehrhart , Egon Willighagen , Kristina Hanspers , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

neurofibromatosis 1

Pathway Ontology

disease pathway

References

1. Common and distinct tubulin binding sites for microtubule-associated proteins. Littauer UZ, Giveon D, Thierauf M, Ginzburg I, Ponstingl H. Proc Natl Acad Sci U S A. 1986 Oct;83(19):7162–6. PubMed Europe PMC Scholia
2. Human cyclin E, a nuclear protein essential for the G1-to-S phase transition. Ohtsubo M, Theodoras AM, Schumacher J, Roberts JM, Pagano M. Mol Cell Biol. 1995 May;15(5):2612–24. PubMed Europe PMC Scholia
3. E2F-6: a novel member of the E2F family is an inhibitor of E2F-dependent transcription. Cartwright P, Müller H, Wagener C, Holm K, Helin K. Oncogene. 1998 Aug 6;17(5):611–23. PubMed Europe PMC Scholia
4. InsP4 facilitates store-operated calcium influx by inhibition of InsP3 5-phosphatase. Hermosura MC, Takeuchi H, Fleig A, Riley AM, Potter BV, Hirata M, et al. Nature. 2000 Dec 7;408(6813):735–40. PubMed Europe PMC Scholia
5. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, et al. Science. 2002 Nov 1;298(5595):1039–43. PubMed Europe PMC Scholia
6. P75 interacts with the Nogo receptor as a co-receptor for Nogo, MAG and OMgp. Wang KC, Kim JA, Sivasankaran R, Segal R, He Z. Nature. 2002 Nov 7;420(6911):74–8. PubMed Europe PMC Scholia
7. A p75(NTR) and Nogo receptor complex mediates repulsive signaling by myelin-associated glycoprotein. Wong ST, Henley JR, Kanning KC, Huang K hua, Bothwell M, Poo M ming. Nat Neurosci. 2002 Dec;5(12):1302–8. PubMed Europe PMC Scholia
8. Methylation of SPT5 regulates its interaction with RNA polymerase II and transcriptional elongation properties. Kwak YT, Guo J, Prajapati S, Park KJ, Surabhi RM, Miller B, et al. Mol Cell. 2003 Apr;11(4):1055–66. PubMed Europe PMC Scholia
9. Elg1 forms an alternative PCNA-interacting RFC complex required to maintain genome stability. Kanellis P, Agyei R, Durocher D. Curr Biol. 2003 Sep 16;13(18):1583–95. PubMed Europe PMC Scholia
10. Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins. Hanck T, Stricker R, Sedehizade F, Reiser G. J Neurochem. 2004 Jan;88(2):326–36. PubMed Europe PMC Scholia
11. Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs. Gauthier-Campbell C, Bredt DS, Murphy TH, El-Husseini AED. Mol Biol Cell. 2004 May;15(5):2205–17. PubMed Europe PMC Scholia
12. The great escape; phosphorylation of Ena/VASP by PKA promotes filopodial formation. Gomez TM, Robles E. Neuron. 2004 Apr 8;42(1):1–3. PubMed Europe PMC Scholia
13. SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex. Cao R, Zhang Y. Mol Cell. 2004 Jul 2;15(1):57–67. PubMed Europe PMC Scholia
14. Silencing of human polycomb target genes is associated with methylation of histone H3 Lys 27. Kirmizis A, Bartley SM, Kuzmichev A, Margueron R, Reinberg D, Green R, et al. Genes Dev. 2004 Jul 1;18(13):1592–605. PubMed Europe PMC Scholia
15. Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity. Pasini D, Bracken AP, Jensen MR, Lazzerini Denchi E, Helin K. EMBO J. 2004 Oct 13;23(20):4061–71. PubMed Europe PMC Scholia
16. Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis. Ishii H, Inageta T, Mimori K, Saito T, Sasaki H, Isobe M, et al. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9655–60. PubMed Europe PMC Scholia
17. Mcl-1 is an anti-apoptotic factor for human hepatocellular carcinoma. Fleischer B, Schulze-Bergkamen H, Schuchmann M, Weber A, Biesterfeld S, Müller M, et al. Int J Oncol. 2006 Jan;28(1):25–32. PubMed Europe PMC Scholia
18. Rab11-FIP4 is predominantly expressed in neural tissues and involved in proliferation as well as in differentiation during zebrafish retinal development. Muto A, Arai KI, Watanabe S. Dev Biol. 2006 Apr 1;292(1):90–102. PubMed Europe PMC Scholia
19. Genome-wide mapping of Polycomb target genes unravels their roles in cell fate transitions. Bracken AP, Dietrich N, Pasini D, Hansen KH, Helin K. Genes Dev. 2006 May 1;20(9):1123–36. PubMed Europe PMC Scholia
20. Syndecan-2 induces filopodia and dendritic spine formation via the neurofibromin-PKA-Ena/VASP pathway. Lin YL, Lei YT, Hong CJ, Hsueh YP. J Cell Biol. 2007 Jun 4;177(5):829–41. PubMed Europe PMC Scholia
21. A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. Cohn MA, Kowal P, Yang K, Haas W, Huang TT, Gygi SP, et al. Mol Cell. 2007 Dec 14;28(5):786–97. PubMed Europe PMC Scholia
22. The histone-binding protein COPR5 is required for nuclear functions of the protein arginine methyltransferase PRMT5. Lacroix M, El Messaoudi S, Rodier G, Le Cam A, Sardet C, Fabbrizio E. EMBO Rep. 2008 May;9(5):452–8. PubMed Europe PMC Scholia
23. A direct interaction between the Utp6 half-a-tetratricopeptide repeat domain and a specific peptide in Utp21 is essential for efficient pre-rRNA processing. Champion EA, Lane BH, Jackrel ME, Regan L, Baserga SJ. Mol Cell Biol. 2008 Nov;28(21):6547–56. PubMed Europe PMC Scholia
24. Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, et al. Cell. 2008 Oct 31;135(3):549–60. PubMed Europe PMC Scholia
25. Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection. Oshiumi H, Matsumoto M, Hatakeyama S, Seya T. J Biol Chem. 2009 Jan 9;284(2):807–17. PubMed Europe PMC Scholia
26. Cloning and characterization of a novel intracellular protein p48.2 that negatively regulates cell cycle progression. Yang F, Xu YP, Li J, Duan SS, Fu YJ, Zhang Y, et al. Int J Biochem Cell Biol. 2009 Nov;41(11):2240–50. PubMed Europe PMC Scholia
27. Human ELG1 regulates the level of ubiquitinated proliferating cell nuclear antigen (PCNA) through Its interactions with PCNA and USP1. Lee KY, Yang K, Cohn MA, Sikdar N, D’Andrea AD, Myung K. J Biol Chem. 2010 Apr 2;285(14):10362–9. PubMed Europe PMC Scholia
28. Distinct and redundant functions of cyclin E1 and cyclin E2 in development and cancer. Caldon CE, Musgrove EA. Cell Div. 2010 Jan 17;5:2. PubMed Europe PMC Scholia
29. The ubiquitin ligase Riplet is essential for RIG-I-dependent innate immune responses to RNA virus infection. Oshiumi H, Miyashita M, Inoue N, Okabe M, Matsumoto M, Seya T. Cell Host Microbe. 2010 Dec 16;8(6):496–509. PubMed Europe PMC Scholia
30. Crosstalk between Arg 1175 methylation and Tyr 1173 phosphorylation negatively modulates EGFR-mediated ERK activation. Hsu JM, Chen CT, Chou CK, Kuo HP, Li LY, Lin CY, et al. Nat Cell Biol. 2011 Feb;13(2):174–81. PubMed Europe PMC Scholia
31. TEFM (c17orf42) is necessary for transcription of human mtDNA. Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, et al. Nucleic Acids Res. 2011 May;39(10):4284–99. PubMed Europe PMC Scholia
32. Quantification of PtdInsP3 molecular species in cells and tissues by mass spectrometry. Clark J, Anderson KE, Juvin V, Smith TS, Karpe F, Wakelam MJO, et al. Nat Methods. 2011 Mar;8(3):267–72. PubMed Europe PMC Scholia
33. Regulation of Rad51 function by phosphorylation. Flott S, Kwon Y, Pigli YZ, Rice PA, Sung P, Jackson SP. EMBO Rep. 2011 Jul 8;12(8):833–9. PubMed Europe PMC Scholia
34. RAS Interaction with PI3K: More Than Just Another Effector Pathway. Castellano E, Downward J. Genes Cancer. 2011 Mar;2(3):261–74. PubMed Europe PMC Scholia
35. Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF. Andreu-Pérez P, Esteve-Puig R, de Torre-Minguela C, López-Fauqued M, Bech-Serra JJ, Tenbaum S, et al. Sci Signal. 2011 Sep 13;4(190):ra58. PubMed Europe PMC Scholia
36. The effect of substrate microtopography on focal adhesion maturation and actin organization via the RhoA/ROCK pathway. Seo CH, Furukawa K, Montagne K, Jeong H, Ushida T. Biomaterials. 2011 Dec;32(36):9568–75. PubMed Europe PMC Scholia
37. The nogo receptor family restricts synapse number in the developing hippocampus. Wills ZP, Mandel-Brehm C, Mardinly AR, McCord AE, Giger RJ, Greenberg ME. Neuron. 2012 Feb 9;73(3):466–81. PubMed Europe PMC Scholia
38. Exorcising the exocyst complex. Heider MR, Munson M. Traffic. 2012 Jul;13(7):898–907. PubMed Europe PMC Scholia
39. Rab11 regulates exocytosis of recycling vesicles at the plasma membrane. Takahashi S, Kubo K, Waguri S, Yabashi A, Shin HW, Katoh Y, et al. J Cell Sci. 2012 Sep 1;125(Pt 17):4049–57. PubMed Europe PMC Scholia
40. DNA methyltransferases, DNA damage repair, and cancer. Jin B, Robertson KD. Adv Exp Med Biol. 2013;754:3–29. PubMed Europe PMC Scholia
41. Role of type II protein arginine methyltransferase 5 in the regulation of Circadian Per1 gene. Na J, Lee K, Kim HG, Shin JY, Na W, Jeong H, et al. PLoS One. 2012;7(10):e48152. PubMed Europe PMC Scholia
42. ATAD5 regulates the lifespan of DNA replication factories by modulating PCNA level on the chromatin. Lee K young, Fu H, Aladjem MI, Myung K. J Cell Biol. 2013 Jan 7;200(1):31–44. PubMed Europe PMC Scholia
43. Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules. Zuccotti P, Cartelli D, Stroppi M, Pandini V, Venturin M, Aliverti A, et al. PLoS One. 2012;7(12):e52867. PubMed Europe PMC Scholia
44. Alternative replication factor C protein, Elg1, maintains chromosome stability by regulating PCNA levels on chromatin. Shiomi Y, Nishitani H. Genes Cells. 2013 Nov;18(11):946–59. PubMed Europe PMC Scholia
45. Regulation of type I interferon responses. Ivashkiv LB, Donlin LT. Nat Rev Immunol. 2014 Jan;14(1):36–49. PubMed Europe PMC Scholia
46. ROCK-2 is associated with focal adhesion maturation during myoblast migration. Goetsch KP, Snyman C, Myburgh KH, Niesler CU. J Cell Biochem. 2014 Jul;115(7):1299–307. PubMed Europe PMC Scholia
47. ROCK2 is a major regulator of axonal degeneration, neuronal death and axonal regeneration in the CNS. Koch JC, Tönges L, Barski E, Michel U, Bähr M, Lingor P. Cell Death Dis. 2014 May 15;5(5):e1225. PubMed Europe PMC Scholia
48. Axon growth inhibition by RhoA/ROCK in the central nervous system. Fujita Y, Yamashita T. Front Neurosci. 2014 Oct 22;8:338. PubMed Europe PMC Scholia
49. Systems Pharmacology of the NGF Signaling Through p75 and TrkA Receptors. Toni T, Dua P, van der Graaf PH. CPT Pharmacometrics Syst Pharmacol. 2014 Dec 3;3(12):e150. PubMed Europe PMC Scholia
50. TEFM is a potent stimulator of mitochondrial transcription elongation in vitro. Posse V, Shahzad S, Falkenberg M, Hällberg BM, Gustafsson CM. Nucleic Acids Res. 2015 Mar 11;43(5):2615–24. PubMed Europe PMC Scholia
51. ERK1 and ERK2 Map Kinases: Specific Roles or Functional Redundancy? Buscà R, Pouysségur J, Lenormand P. Front Cell Dev Biol. 2016 Jun 8;4:53. PubMed Europe PMC Scholia
52. The Ras/Raf/MEK/ERK signaling pathway and its role in the occurrence and development of HCC. Li L, Zhao GD, Shi Z, Qi LL, Zhou LY, Fu ZX. Oncol Lett. 2016 Nov;12(5):3045–50. PubMed Europe PMC Scholia
53. EVI2B is a C/EBPα target gene required for granulocytic differentiation and functionality of hematopoietic progenitors. Zjablovskaja P, Kardosova M, Danek P, Angelisova P, Benoukraf T, Wurm AA, et al. Cell Death Differ. 2017 Apr;24(4):705–16. PubMed Europe PMC Scholia
54. Ras-Mediated Activation of the Raf Family Kinases. Terrell EM, Morrison DK. Cold Spring Harb Perspect Med. 2019 Jan 2;9(1):a033746. PubMed Europe PMC Scholia
55. Insights into the roles of miRNAs; miR-193 as one of small molecular silencer in osteosarcoma therapy. Izadpanah S, Shabani P, Aghebati-Maleki A, Baghbani E, Baghbanzadeh A, Fotouhi A, et al. Biomed Pharmacother. 2019 Mar;111:873–81. PubMed Europe PMC Scholia
56. TEFM regulates both transcription elongation and RNA processing in mitochondria. Jiang S, Koolmeister C, Misic J, Siira S, Kühl I, Silva Ramos E, et al. EMBO Rep. 2019 Jun;20(6):e48101. PubMed Europe PMC Scholia
57. The Small GTPase Arf6: An Overview of Its Mechanisms of Action and of Its Role in Host⁻Pathogen Interactions and Innate Immunity. Van Acker T, Tavernier J, Peelman F. Int J Mol Sci. 2019 May 5;20(9):2209. PubMed Europe PMC Scholia
58. Long Non-coding RNAs in Myeloid Malignancies. Zimta AA, Tomuleasa C, Sahnoune I, Calin GA, Berindan-Neagoe I. Front Oncol. 2019 Oct 18;9:1048. PubMed Europe PMC Scholia
59. Increased expression of ecotropic viral integration site 2A indicates a poor prognosis and promotes osteosarcoma evolution through activating MEK/ERK pathway. Li S, Yang F, Yang YK, Zhou Y. J Recept Signal Transduct Res. 2019 Aug;39(4):368–72. PubMed Europe PMC Scholia
60. ATAD5 promotes replication restart by regulating RAD51 and PCNA in response to replication stress. Park SH, Kang N, Song E, Wie M, Lee EA, Hwang S, et al. Nat Commun. 2019 Dec 16;10(1):5718. PubMed Europe PMC Scholia
61. Neurofibromin Structure, Functions and Regulation. Bergoug M, Doudeau M, Godin F, Mosrin C, Vallée B, Bénédetti H. Cells. 2020 Oct 27;9(11):2365. PubMed Europe PMC Scholia
62. POLRMT mutations impair mitochondrial transcription causing neurological disease. Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, et al. Nat Commun. 2021 Feb 18;12(1):1135. PubMed Europe PMC Scholia
63. Nucleolar maturation of the human small subunit processome. Singh S, Vanden Broeck A, Miller L, Chaker-Margot M, Klinge S. Science. 2021 Sep 10;373(6560):eabj5338. PubMed Europe PMC Scholia
64. KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders. Vendramini E, Bomben R, Pozzo F, Bittolo T, Tissino E, Gattei V, et al. Cancers (Basel). 2022 Jan 28;14(3):666. PubMed Europe PMC Scholia
65. MiR-4733-5p promotes gallbladder carcinoma progression via directly targeting kruppel like factor 7. Hu X, Zhang J, Bu J, Yang K, Xu S, Pan M, et al. Bioengineered. 2022 Apr;13(4):10691–706. PubMed Europe PMC Scholia
66. Identification of hsa-miR-365b-5p’s role in Alzheimer’s disease: A combined analysis of miRNA and mRNA microarrays. Wang Y, Lv S, Zhou X, Niu X, Chen L, Yang Z, et al. Neurosci Lett. 2022 Nov 1;790:136892. PubMed Europe PMC Scholia