Linking Ubiquitin Research to Drug Discovery

 

Reference Number

 

Target / Therapeutic Area

 

PubMed Reference

 

PubMed Link

 

1 IDOL / Lipid Homeostasis Sorrentino V, Fouchier SW, Motazacker MM, Nelson JK, Defesche JC, Dallinga-Thie GM, Kastelein JJ, Kees Hovingh G, Zelcer N. (2013) Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein. Eur Heart J. 34(17):1292-7. PMID:23324548
2 IDOL / Lipid Homeostasis Zelcer N, Hong C, Boyadjian R, Tontonoz P. (2009) LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor. Science 325(5936):100-4. PMID: 19520913
3 CHIP / Alzheimer’s Disease Cook C, Gendron TF, Scheffel K, Carlomagno Y, Dunmore J, DeTure M, Petrucelli L. (2012) Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation. Hum Mol Genet. 21(13):2936-45. PMID: 22492994
4 CHIP / Huntingdon’s Disease Miller VM, Nelson RF, Gouvion CM, Williams A, Rodriguez-Lebron E, Harper SQ, Davidson BL, Rebagliati MR, Paulson HL. (2005) CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo. J Neurosci. 25(40):9152-61. PMID: 16207874
5 CHIP / Alzheimer’s Disease Kumar P, Ambasta RK, Veereshwarayya V, Rosen KM, Kosik KS, Band H, Mestril R, Patterson C, Querfurth HW. (2007) CHIP and HSPs interact with beta-APP in a proteasome-dependent manner and influence Abeta metabolism. Hum Mol Genet. 16(7):848-64. PMID: 17317785
6 ITCH / Autoimmune disease Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. (2010) Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 86(3):447-53. PMID: 20170897
7 CHIP / Oncogenesis Xu T, Zhou Q, Zhou J, Huang Y, Yan Y, Li W, Wang C, Hu G, Lu Y, Chen J. (2011) Carboxyl terminus of Hsp70-interacting protein (CHIP) contributes to human glioma oncogenesis. Cancer Sci. 102(5):959-66. PMID: 21272160
8 ZNRF2 / Presynaptic expression Araki T, Milbrandt J. (2003) ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases. J Neurosci. 23(28):9385-94. PMID: 14561866
9 BIRC2 / Cervical cancer Choschzick M, Tabibzada AM, Gieseking F, Woelber L, Jaenicke F, Sauter G, Simon R. (2012) BIRC2 amplification in squamous cell carcinomas of the uterine cervix. Virchows Arch. 461(2):123-8. PMID: 22733500
10 Cullin 5 / Leukemia Baxter SS, Carlson LA, Mayer AM, Hall ML, Fay MJ. (2009) Granulocytic differentiation of HL-60 promyelocytic leukemia cells is associated with increased expression of Cul5. In Vitro Cell Dev Biol Anim. 45(5-6):264-74. PMID: 19118439
11 Cullin 5 / Renal cancer Lewis SP, Willis AN, Johnson AE, Resau J, Burnatowska-Hledin MA. (2011) Mutational analysis of VACM-1/cul5 exons in cancer cell lines. APMIS. 119(7):421-30. PMID: 21635549
12 Cullin 3 / Bladder cancer Grau L, Luque-Garcia JL, González-Peramato P, Theodorescu D, Palou J, Fernandez-Gomez JM, Sánchez-Carbayo M. (2013) Quantitative proteomic analysis uncovers the relevance of CUL3 in bladder cancer aggressiveness. PLoS One. 2013;8(1). PMID: 23308193
13 Cullin 3 / Renal cancer Ooi A, Dykema K, Ansari A, Petillo D, Snider J, Kahnoski R, Anema J, Craig D, Carpten J, Teh BT, Furge KA. (2013) CUL3 and NRF2 mutations confer an NRF2 activation phenotype in a sporadic form of papillary renal cell carcinoma. Cancer Res. 73(7):2044-51. PMID: 23365135
14 Cullin 1 / Rheumatoid Arthritis Negi S, Kumar A, Thelma BK, Juyal RC. (2011) Association of Cullin1 haplotype variants with rheumatoid arthritis and response to methotrexate. Pharmacogenet Genomics. 21(9):590-3. PMID: 21738080
15 Cullin 1 / Alzheimer’s Disease Gong B, Chen F, Pan Y, Arrieta-Cruz I, Yoshida Y, Haroutunian V, Pasinetti GM. (2010) SCFFbx2-E3-ligase-mediated degradation of BACE1 attenuates Alzheimer’s disease amyloidosis and improves synaptic function. Aging Cell. 9(6):1018-31. PMID: 20854419
16 RNF8 / NSCLC Zhou H, Mu X, Chen J, Liu H, Shi W, Xing E, Yang K, Wu G. (2013) RNAi silencing targeting RNF8 enhances radiosensitivity of a non-small cell lung cancer cell line A549. Int J Radiat Biol. 89(9):708-15. PMID: 23578064
17 WWP1 / Breast cancer Yeung B, Ho KC, Yang X. (2013) WWP1 E3 ligase targets LATS1 for ubiquitin-mediated degradation in breast cancer cells. PLoS One. 8(4) 2013. PMID: 23573293
18 SMURF1 & 2 / Breast cancer Fukunaga E, Inoue Y, Komiya S, Horiguchi K, Goto K, Saitoh M, Miyazawa K, Koinuma D, Hanyu A, Imamura T. (2008) Smurf2 induces ubiquitin-dependent degradation of Smurf1 to prevent migration of breast cancer cells. J Biol Chem. 283(51):35660-7. PMID: 18927080
19 SMURF1 / Pancreatic cancer Kwei KA, Shain AH, Bair R, Montgomery K, Karikari CA, van de Rijn M, Hidalgo M, Maitra A, Bashyam MD, Pollack JR. (2011) SMURF1 amplification promotes invasiveness in pancreatic cancer. PLoS One. 6(8) 2011. PMID: 21887346
20 SMURF1 / Liver cancer Wang X, Zhang HJ, Hu YS, Zong ZJ, Li YH, Li CY. (2012) [The role of Smad ubiquitination regulatory factor 1 in hepatocellular carcinoma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 29(5):533-6. [Article in Chinese]. PMID: 23042388
21 RNF11 / Parkinson’s Disease Anderson LR, Betarbet R, Gearing M, Gulcher J, Hicks AA, Stefánsson K, Lah JJ, Levey AI. (2007) PARK10 candidate RNF11 is expressed by vulnerable neurons and localizes to Lewy bodies in Parkinson disease brain. J Neuropathol Exp Neurol. 66(10):955-64. PMID: 17917589
22 RNF11 / Microglia Dalal NV, Pranski EL, Tansey MG, Lah JJ, Levey AI, Betarbet RS. (2012) RNF11 modulates microglia activation through NF-κB signalling cascade. Neurosci Lett. 528(2):174-9. PMID: 22975135
23 TRIAD1 / Leukemia Marteijn JA, et al. (2009) The ubiquitin ligase Triad1 inhibits myelopoiesis through UbcH7 and Ubc13 interacting domains. Leukemia 23(8):1480-9. PMID: 19340006
24 DCNL1 / Neurodegeneration Villa C, Venturelli E, Fenoglio C, Clerici F, Marcone A, Benussi L, Gallone S, Scalabrini D, Cortini F, Serpente M, Martinelli Boneschi F, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini E, Galimberti D. (2009) DCUN1D1 is a risk factor for frontotemporal lobar degeneration. Eur J Neurol. 16(7):870-3. PMID: 19473369
25 MURF1 / Cardiomyopathy Chen SN, Czernuszewicz G, Tan Y, Lombardi R, Jin J, Willerson JT, Marian AJ. (2012) Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy. Circ Res. 14;111(7):907-19. PMID: 22821932
26 Parkin / Alzheimer’s Disease Khandelwal PJ, Herman AM, Hoe HS, Rebeck GW, Moussa CE. (2011) Parkin mediates beclin-dependent autophagic clearance of defective mitochondria and ubiquitinated Abeta in AD models. Hum Mol Genet. 20(11):2091-102. PMID: 21378096
27 Parkin / Parkinson’s Disease Trempe JF, Sauvé V, Grenier K, Seirafi M, Tang MY, Ménade M, Al-Abdul-Wahid S, Krett J, Wong K, Kozlov G, Nagar B, Fon EA, Gehring K. (2013) Structure of parkin reveals mechanisms for ubiquitin ligase activation. Science 21;340(6139):1451-5. PMID: 23661642
28 USP1 / NSCLC Zhiqiang Z, Qinghui Y, Yongqiang Z, Jian Z, Xin Z, Haiying M, Yuepeng G. (2012) USP1 regulates AKT phosphorylation by modulating the stability of PHLPP1 in lung cancer cells. J Cancer Res Clin Oncol. 138(7):1231-8. PMID: 22426999
29 USP2 / Bladder cancer Kim J, Kim WJ, Liu Z, Loda M, Freeman MR. (2012) The ubiquitin-specific protease USP2a enhances tumor progression by targeting cyclin A1 in bladder cancer. Cell Cycle. 11(6):1123-30. PMID: 22370483
30 USP2a / Prostate cancer Nelson WG, De Marzo AM, Yegnasubramanian S. (2012) USP2a activation of MYC in prostate cancer. Cancer Discov. 2(3):206-7. PMID: 22585990
31 USP4 / Immunomodulation Zhou F, Zhang X, van Dam H, Ten Dijke P, Huang H, Zhang L. (2012) Ubiquitin-specific protease 4 mitigates Toll-like/interleukin-1 receptor signaling and regulates innate immune activation. J Biol Chem. 287(14):11002-10. PMID: 22262844
32 USP5 / Glioblastoma Izaguirre DI, Zhu W, Hai T, Cheung HC, Krahe R, Cote GJ. (2012) PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis. Mol Carcinog. 51(11):895-906. PMID: 21976412
33 USP7 / Myeloma Chauhan D, Tian Z, Nicholson B, Kumar KG, Zhou B, Carrasco R, McDermott JL, Leach CA, Fulcinniti M, Kodrasov MP, Weinstock J, Kingsbury WD, Hideshima T, Shah PK, Minvielle S, Altun M, Kessler BM, Orlowski R, Richardson P, Munshi N, Anderson KC. (2012) A small molecule inhibitor of ubiquitin-specific protease-7 induces apoptosis in multiple myeloma cells and overcomes bortezomib resistance. Cancer Cell. 22(3):345-58. PMID: 22975377
34 USP9x / Pancreatic cancer Greenhill C. (2012) Pancreatic cancer: USP9X can be used to predict pancreatic cancer outcomes. Nat Rev Gastroenterol Hepatol. 9(6):302. PMID: 22585132
35 USP9x / Colorectal cancer Harris DR, Mims A, Bunz F. (2012) Genetic disruption of USP9X sensitizes colorectal cancer cells to 5-fluorouracil. Cancer Biol Ther. 13(13):1319-24. PMID: 22895071
36 USP14 / Liver cancer Chuensumran U, Saelee P, Punyarit P, Wongkham S, Pairojkul C, Chauin S, Petmitr S (2011) Ubiquitin-specific protease 14 expression associated with intrahepatic cholangiocarcinoma cell differentiation. Asian Pac J Cancer Prev. 12(3):775-779. PMID: 21627382
37 USP14 / Colorectal cancer Shinji S, Naito Z, Ishiwata S, Ishiwata T, Tanaka N, Furukawa K, Suzuki H, Seya T, Matsuda A, Katsuta M, Tajiri T. (2006) Ubiquitin-specific protease 14 expression in colorectal cancer is associated with liver and lymph node metastases. Oncol Rep. 15(3):539-543. PMID: 16465409
38 USP14 / Alzheimer’s Disease Jin YN, Chen PC, Watson JA, Walters BJ, Phillips SE, Green K, Schmidt R, Wilson JA, Johnson GV, Roberson ED, Dobrunz LE, Wilson SM. (2012) Usp14 deficiency increases tau phosphorylation without altering tau degradation or causing tau-dependent deficits. PLoS One. 7(10) 2012. PMID: 23144711
39 USP15 / Glioblastoma Eichhorn PJ, Rodón L, Gonzàlez-Juncà A, Dirac A, Gili M, Martínez-Sáez E, Aura C, Barba I, Peg V, Prat A, Cuartas I, Jimenez J, García-Dorado D, Sahuquillo J, Bernards R, Baselga J, Seoane J (2012) USP15 stabilizes TGF-β receptor I and promotes oncogenesis through the activation of TGF-β signaling in glioblastoma. Nat Med. 18(3):429-35. PMID: 22344298
40 USP19 & USP14 / Muscular atrophy Wing SS (2013) Deubiquitinases in skeletal muscle atrophy. Int J Biochem Cell Biol. 45(10):2130-5. PMID: 23680672
41 USP20 / Immunomodulation Yasunaga J, Lin FC, Lu X, Jeang KT. (2011) Ubiquitin-specific peptidase 20 targets TRAF6 and human T cell leukemia virus type 1 tax to negatively regulate NF-kappaB signaling. J Virol. 85(13):6212-9. PMID: 21525354
42 USP25 / NSCLC Groet J, Ives JH, Jones TA, Danton M, Flomen RH, Sheer D, Hrascan R, Pavelic K, Nizetic D. (2000) Narrowing of the region of allelic loss in 21q11-21 in squamous non-small cell lung carcinoma and cloning of a novel ubiquitin-specific protease gene from the deleted segment. Genes Chromosomes Cancer 27, 153-161. PMID: 10612803
43 USP28 / Breast cancer Wu Y, Wang Y, Yang XH, Kang T, Zhao Y, Wang C, Evers BM, Zhou BP. (2013) The Deubiquitinase USP28 Stabilizes LSD1 and Confers Stem-Cell-like Traits to Breast Cancer Cells. Cell Rep. 2013 Sep 25. PMID: 24075993
44 USP36 / Ovarian cancer Li J, Olson LM, Zhang Z, Li L, Bidder M, Nguyen L, Pfeifer J, Rader JS. (2008) Differential display identifies overexpression of the USP36 gene, encoding a deubiquitinating enzyme, in ovarian cancer. Int J Med Sci. 5, 133-142. PMID: 18566677
45 CYLD / Skin cancers Alameda JP, Fernández-Aceñero MJ, Quintana RM, Page A, Ramírez Á, Navarro M, Casanova ML. (2013) Functional inactivation of CYLD promotes the metastatic potential of tumor epidermal cells. Invest Dermatol. 133(7):1870-8. PMID: 23426135
46 UCHL1 / Neurodegeneration Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M.(2013) Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci USA 110(9):3489-94. PMID: 23359680
47 UCHL1 / Colorectal cancer Zhong J, Zhao M, Ma Y, Luo Q, Liu J, Wang J, Yuan X, Sang J, Huang C. (2012) UCHL1 acts as a colorectal cancer oncogene via activation of the β-catenin/TCF pathway through its deubiquitinating activity. Int J Mol Med. 30(2):430-6. PMID: 22641175
48 UCHL3 / Cervical cancer Rolén U, Kobzeva V, Gasparjan N, Ovaa H, Winberg G, Kisseljov F, Masucci MG. (2006) Activity profiling of deubiquitinating enzymes in cervical carcinoma biopsies and cell lines. Mol Carcinog. 45, 260-269. PMID: 16402389
49 OTU1 / Ovarian cancer Messick TE, Russell NS, Iwata AJ, Sarachan KL, Shiekhattar R, Shanks JR, Reyes-Turcu FE, Wilkinson KD, Marmorstein R. (2008) Structural basis for ubiquitin recognition by the Otu1 ovarian tumor domain protein. J Biol Chem. 283, 11038-11049. PMID: 18270205
50 OTUB2 / Diabetes Beck A, Vinik Y, Shatz-Azoulay H, Isaac R, Streim S, Jona G, Boura-Halfon S, Zick Y. (2013) Otubain 2 is a novel promoter of beta cell survival as revealed by siRNA high-throughput screens of human pancreatic islets. Diabetologia 56(6):1317-26. PMID: 23515685
51 OTUB1 / Glomerulonephritis Zhang Y, Hu R, Wu H, Jiang W, Sun Y, Wang Y, Song Y, Jin T, Zhang H, Mao X, Zhao Z, Zhang Z. (2012) OTUB1 overexpression in mesangial cells is a novel regulator in the pathogenesis of glomerulonephritis through the decrease of DCN level. PLoS One. 7(1)2012. PMID: 22279542
52 OTUD5 / Immunomodulation González-Navajas JM, Law J, Nguyen KP, Bhargava M, Corr MP, Varki N, Eckmann L, Hoffman HM, Lee J, Raz E. (2010) Interleukin 1 receptor signaling regulates DUBA expression and facilitates Toll-like receptor 9-driven antiinflammatory cytokine production. J Exp Med. 207(13):2799-807. PMID: 21115691
53 Ataxin-3 / Parkinson’s Disease Durcan TM, Kontogiannea M, Bedard N, Wing SS, Fon EA. (2012) Ataxin-3 deubiquitination is coupled to Parkin ubiquitination via E2 ubiquitin-conjugating enzyme. J Biol Chem. 287(1):531-541. PMID: 22081612
54 A20 / Inflammation Vereecke L, Beyaert R, van Loo G. (2011) Genetic relationships between A20/TNFAIP3, chronic inflammation and autoimmune disease. Biochem Soc Trans. 39(4):1086-91. PMID: 21787353
55 A20 / Leukemia Zhang F, Yang L, Li Y. (2012) The role of A20 in the pathogenesis of lymphocytic malignancy. Cancer Cell Int. 12(1):44. PMID: 23134590
56 OTULIN / Immunomodulation Fiil BK, Damgaard RB, Wagner SA, Keusekotten K, Fritsch M, Bekker-Jensen S, Mailand N, Choudhary C, Komander D, Gyrd-Hansen M. (2013) OTULIN restricts Met1-linked ubiquitination to control innate immune signaling. Mol Cell. 50(6):818-30. PMID: 23806334
57 USP8 / Myeloma Tiedemann RE, Zhu YX, Schmidt J, Shi CX, Sereduk C, Yin H, Mousses S, Stewart AK. (2012) Identification of molecular vulnerabilities in human multiple myeloma cells by RNA interference lethality screening of the druggable genome. Cancer Res. 72(3):757-68. PMID: 22147262
58 USP8 / NSCLC Byun S, Lee SY, Lee J, Jeong CH, Farrand L, Lim S, Reddy K, Kim JY, Lee MH, Lee HJ, Bode AM, Won Lee K, Dong Z. (2013) USP8 Is a Novel Target for Overcoming Gefitinib Resistance in Lung Cancer. Clinical cancer research: an official journal of the American Association for Cancer Research 19(14):3894-3904. PMID: 23748694
59 USP8 / Lipid Homeostasis Scotti E, Calamai M, Goulbourne CN, Zhang L, Hong C, Lin RR, Choi J, Pilch PF, Fong LG, Zou P, Ting AY, Pavone FS, Young SG, Tontonoz P. (2013) IDOL stimulates clathrin-independent endocytosis and multivesicular body-mediated lysosomal degradation of the low-density lipoprotein receptor. Mol Cell Biol. 33(8):1503-1514. PMID: 23382078
60 BAP1 / Renal carcinoma Brugarolas J. (2013) PBRM1 and BAP1 as novel targets for renal cell carcinoma. Cancer J. 19(4):324-32. PMID: 23867514
61 BAP1 / Leukemia Abdel-Wahab O, Dey A. (2013) The ASXL-BAP1 axis: new factors in myelopoiesis, cancer and epigenetics. Leukemia. 27(1):10-5. PMID: 23147254
62 USP11 / Breast cancer Schoenfeld AR, Apgar S, Dolios G, Wang R, Aaronson SA. (2004) BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. Mol Cell Biol. 24(17):7444-55. PMID: 15314155
63 USP11 / Breast cancer Bayraktar S, Gutierrez Barrera AM, Liu D, Pusztai L, Litton J, Valero V, Hunt K, Hortobagyi GN, Wu Y, Symmans F, Arun B. (2013) USP-11 as a predictive and prognostic factor following neoadjuvant therapy in women with breast cancer. Cancer J. 19(1):10-7. PMID: 23337751
64 USP35 / Breast cancer Chin SF, Teschendorff AE, Marioni JC, Wang Y, Barbosa-Morais NL, Thorne NP, Costa JL, Pinder SE, van de Wiel MA, Green AR, Ellis IO, Porter PL, Tavaré S, Brenton JD, Ylstra B, Caldas C. (2007) High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer. Genome Biol. 8(10):R215. PMID: 17925008
65 Cezanne / Inflammation Abe J, Berk BC (2013) Cezanne paints inflammation by regulating ubiquitination. Circ Res. 112(12):1526-8. PMID: 23743222
66 Cezanne / Breast cancer Pareja F, Ferraro DA, Rubin C, Cohen-Dvashi H, Zhang F, Aulmann S, Ben-Chetrit N, Pines G, Navon R, Crosetto N, Köstler W, Carvalho S, Lavi S, Schmitt F, Dikic I, Yakhini Z, Sinn P, Mills GB, Yarden Y. (2012) Deubiquitination of EGFR by Cezanne-1 contributes to cancer progression. Oncogene. 31(43):4599-608. PMID: 22179831
67 Cul1/Rbx1 / Melanoma Xie CM, Wei W, Sun Y. (2013) Role of SKP1-CUL1-F-box-protein (SCF) E3 ubiquitin ligases in skin cancer. J Genet Genomics. 40(3):97-106. PMID: 23522382
68 Cul1/Rbx1 / Gastric cancer Bai J, Zhou Y, Chen G, Zeng J, Ding J, Tan Y, Zhou J, Li G. (2011) Overexpression of Cullin1 is associated with poor prognosis of patients with gastric cancer. Hum Pathol. 42(3):375-83. PMID: 21190721
69 IPAH / Inflammation Ashida H, Kim M, Schmidt-Supprian M, Ma A, Ogawa M, Sasakawa C. (2010) A bacterial E3 ubiquitin ligase IpaH9.8 targets NEMO/IKKgamma to dampen the host NF-kappaB-mediated inflammatory response. Nat Cell Biol. 12(1):66-73. PMID: 20010814
70 RNF8 / Colorectal cancer Seki N, Hattori A, Sugano S, Suzuki Y, Nakagawara A, Ohhira M, Muramatsu M, Hori T, Saito T. (1998) Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif. J Hum Genet. 43(4):272-4. PMID: 9852682
71 DUBs and tissue expression and cancer associations Clague MJ, Barsukov I, Coulson JM, Liu H, Rigden DJ, Urbé S. (2013) Deubiquitylases from genes to organism. Physiol Rev. 93(3):1289-315. PMID: 23899565
72 Ube1 / Muscular atrophy Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. (2008) Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 82(1):188-93. PMID: 18179898
73 APP-BP1 / Alzheimer’s Disease Chow N, Korenberg JR, Chen XN, Neve RL. (1996) APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. J Biol Chem. 271(19):11339-46. PMID: 8626687
74 CBL / Myeloma Schwaab J, Ernst T, Erben P, Rinke J, Schnittger S, Ströbel P, Metzgeroth G, Mossner M, Haferlach T, Cross NC, Hochhaus A, Hofmann WK, Reiter A.(2012) Activating CBL mutations are associated with a distinct MDS/MPN phenotype. Ann Hematol. 91(11):1713-20. PMID: 23010802
75 CBL / Leukaemia Martinelli S, Checquolo S, Consoli F, Stellacci E, Rossi C, Silvano M, Franciosa G, Flex E, Cossu C, De Luca A, Foà R, Cazzaniga G, Biondi A, Screpanti I, Tartaglia M. (2012) Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia. Br J Haematol. 159(1):115-9. PMID: 22834886
76 CBL / Leukaemia Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y. (2012) Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia. Leuk Res. 36(8):1009-15. PMID: 22591685
77 Proteasome / Oncology Shen M, Schmitt S, Buac D, Dou QP.(2013) Targeting the ubiquitin-proteasome system for cancer therapy. Expert Opin Ther Targets. 17(9):1091-108. PMID: 23822887
78 Proteasome / Myeloma Fostier K, De Becker A, Schots R. (2012) Carfilzomib: a novel treatment in relapsed and refractory multiple myeloma. Onco Targets Ther. 5:237-44. PMID: 23055749
79 NEMO / Immunomodulation Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 27(3):277-85. PMID: 11242109
80 Optineurin / Motor neuron disease Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H. (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 465(7295):223-6. PMID: 20428114
81 Ube2A / Neurodegeneration;Parkinson’s Disease Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P. (2013) Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell. 50(6): 831-43. PMID 23685073
82 Ube2C / NSCLC Zhao L, Jiang L, Wang L, He J, Yu H, Sun G, Chen J, Xiu Q, Li B. (2012) UbcH10 expression provides a useful tool for the prognosis and treatment of non-small cell lung cancer. J Cancer Res Clin Oncol. 138(11):1951-61. PMID 23355337
83 Ube2H / Neurodegeneration, ALS Martin I, Vourc’h P, Mahé M, Thépault RA, Antar C, Védrine S, Praline J, Camu W, Andres CR, Corcia P. (2009) Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS. Amyotroph Lateral Scler. 10 (5-6):432-5. PMID 19922136
84 Ube2I / Lung cancer Li H, Niu H, Peng Y, Wang J, He P. (2013) Ubc9 promotes invasion and metastasis of lung cancer cells. Oncol Rep. 29(4):1588-94. PMID 23381475
85 Ube2K / Neurodegeneration; Huntington Disease dePril R, Fischer DF, Roos RA, van Leeuwen FW. (2007) Ubiquitin-conjugating enzyme E2-25K increases aggregate formation and cell death in polyglutamine diseases. Mol Cell Neurosci. 34(1):10-19. PMID 17092742
86 Ube2Q1 / Breast cancer Seghatoleslam A, Nikseresht M, Shafiee SM, Monabati A, Namavari MM, Talei A, Safaei A, Owji AA. Expression of the novel human gene, UBE2Q1, in breast tumors. Mol Biol Rep. (2012) 39(5):5135-41. PMID: 22167327
87 Ube2Q2 / Breast cancer Nikseresht M, Seghatoleslam A, Monabati A, Talei A, Ghalati FB, Owji AA. (2010) Overexpression of the novel human gene, UBE2Q2, in breast cancer. Cancer Genet Cytogenet. 197(2):101-6. PMID: 20193842
88 Ube2S / Cervical cancer Liang J, Nishi H, Bian ML, Higuma C, Sasaki T, Ito H, Isaka K. (2012) The ubiquitin-conjugating enzyme E2-EPF is overexpressed in cervical cancer and associates with tumor growth. Oncol Rep. 28(4):1519-25. PMID: 22895574
89 Ube2T / Lung cancer Hao J, Xu A, Xie X, Hao J, Tian T, Gao S, Xiao X, He D. (2008) Elevated expression of UBE2T in lung cancer tumors and cell lines. Tumour Biol. 29(3):195-203. PMID: 18667844
90 MuRF1 / Muscle atrophy Cohen S, Brault JJ, Gygi SP, Glass DJ, Valenzuela DM, Gartner C, Latres E, Goldberg AL. (2009) During muscle atrophy, thick, but not thin, filament components are degraded by MuRF1-dependent ubiquitylation. <em>J Cell Biol</em>. <strong>185</strong> 1083-95. PMID: 19506036