Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
10.1007/s00401-012-0970-z
Crossref journal-article
Springer Science and Business Media LLC
Acta Neuropathologica (297)
Bibliography

Brettschneider, J., Van Deerlin, V. M., Robinson, J. L., Kwong, L., Lee, E. B., Ali, Y. O., Safren, N., Monteiro, M. J., Toledo, J. B., Elman, L., McCluskey, L., Irwin, D. J., Grossman, M., Molina-Porcel, L., Lee, V. M.-Y., & Trojanowski, J. Q. (2012). Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathologica, 123(6), 825–839.

Authors 16
  1. Johannes Brettschneider (first)
  2. Vivianna M. Van Deerlin (additional)
  3. John L. Robinson (additional)
  4. Linda Kwong (additional)
  5. Edward B. Lee (additional)
  6. Yousuf O. Ali (additional)
  7. Nathaniel Safren (additional)
  8. Mervyn J. Monteiro (additional)
  9. Jon B. Toledo (additional)
  10. Lauren Elman (additional)
  11. Leo McCluskey (additional)
  12. David J. Irwin (additional)
  13. Murray Grossman (additional)
  14. Laura Molina-Porcel (additional)
  15. Virginia M.-Y. Lee (additional)
  16. John Q. Trojanowski (additional)
References 63 Referenced 153
  1. Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122:691–702 (10.1007/s00401-011-0911-2) / Acta Neuropathol by S Al-Sarraj (2011)
  2. Bertram L, Hiltunen M, Parkinson M, Ingelsson M, Lange C, Ramasamy K, Mullin K, Menon R, Sampson AJ, Hsiao MY, Elliott KJ, Velicelebi G, Moscarillo T, Hyman BT, Wagner SL, Becker KD, Blacker D, Tanzi RE (2005) Family-based association between Alzheimer’s disease and variants in UBQLN1. N Engl J Med 352:884–894 (10.1056/NEJMoa042765) / N Engl J Med by L Bertram (2005)
  3. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, Dearmond S, Miller BL, Rademakers R (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 82:196–203 (10.1136/jnnp.2009.204081) / J Neurol Neurosurg Psychiatry by AL Boxer (2011)
  4. Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293–299 (10.1080/146608200300079536) / Amyotroph Lateral Scler Other Motor Neuron Disord by BR Brooks (2000)
  5. Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A (1999) The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 169:13–21 (10.1016/S0022-510X(99)00210-5) / J Neurol Sci by JM Cedarbaum (1999)
  6. Conklin D, Holderman S, Whitmore TE, Maurer M, Feldhaus AL (2000) Molecular cloning, chromosome mapping and characterization of UBQLN3 a testis-specific gene that contains an ubiquitin-like domain. Gene 249:91–98 (10.1016/S0378-1119(00)00122-0) / Gene by D Conklin (2000)
  7. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256 (10.1016/j.neuron.2011.09.011) / Neuron by M Dejesus-Hernandez (2011)
  8. Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477:211–215 (10.1038/nature10353) / Nature by HX Deng (2011)
  9. Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP et al (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261:1047–1051 (10.1126/science.8351519) / Science by HX Deng (1993)
  10. Doi H, Mitsui K, Kurosawa M, Machida Y, Kuroiwa Y, Nukina N (2004) Identification of ubiquitin-interacting proteins in purified polyglutamine aggregates. FEBS Lett 571:171–176 (10.1016/j.febslet.2004.06.077) / FEBS Lett by H Doi (2004)
  11. Elsasser S, Finley D (2005) Delivery of ubiquitinated substrates to protein-unfolding machines. Nat Cell Biol 7:742–749 (10.1038/ncb0805-742) / Nat Cell Biol by S Elsasser (2005)
  12. Folstein MF, Folstein SE, McHugh PR (1975) “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12:189–198 (10.1016/0022-3956(75)90026-6) / J Psychiatr Res by MF Folstein (1975)
  13. Geser F, Lee VM, Trojanowski JQ (2010) Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies. Neuropathology 30:103–112 (10.1111/j.1440-1789.2009.01091.x) / Neuropathology by F Geser (2010)
  14. Geser F, Martinez-Lage M, Robinson J, Uryu K, Neumann M, Brandmeir NJ, Xie SX, Kwong LK, Elman L, McCluskey L, Clark CM, Malunda J, Miller BL, Zimmerman EA, Qian J, Van Deerlin V, Grossman M, Lee VM, Trojanowski JQ (2009) Clinical and pathological continuum of multisystem TDP-43 proteinopathies. Arch Neurol 66:180–189 (10.1001/archneurol.2008.558) / Arch Neurol by F Geser (2009)
  15. Geser F, Robinson JL, Malunda JA, Xie SX, Clark CM, Kwong LK, Moberg PJ, Moore EM, Van Deerlin VM, Lee VM, Arnold SE, Trojanowski JQ (2010) Pathological 43-kDa transactivation response DNA-binding protein in older adults with and without severe mental illness. Arch Neurol 67:1238–1250 (10.1001/archneurol.2010.254) / Arch Neurol by F Geser (2010)
  16. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11:54–65 (10.1016/S1474-4422(11)70261-7) / Lancet Neurol by I Gijselinck (2012)
  17. Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M (2011) Classification of primary progressive aphasia and its variants. Neurology 76:1006–1014 (10.1212/WNL.0b013e31821103e6) / Neurology by ML Gorno-Tempini (2011)
  18. Hyman BT, Trojanowski JQ (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol 56:1095–1097 (10.1097/00005072-199710000-00002) / J Neuropathol Exp Neurol by BT Hyman (1997)
  19. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572–574 (10.1038/ng.132) / Nat Genet by E Kabashi (2008)
  20. Kertesz A, Davidson W, Fox H (1997) Frontal behavioral inventory: diagnostic criteria for frontal lobe dementia. Can J Neurol Sci 24:29–36 (10.1017/S0317167100021053) / Can J Neurol Sci by A Kertesz (1997)
  21. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, Burrell JR, Zoing MC (2011) Amyotrophic lateral sclerosis. Lancet 377:942–955 (10.1016/S0140-6736(10)61156-7) / Lancet by MC Kiernan (2011)
  22. Kim SH, Shi Y, Hanson KA, Williams LM, Sakasai R, Bowler MJ, Tibbetts RS (2009) Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1. J Biol Chem 284:8083–8092 (10.1074/jbc.M808064200) / J Biol Chem by SH Kim (2009)
  23. King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S (2011) Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathology 31:239–249 (10.1111/j.1440-1789.2010.01171.x) / Neuropathology by A King (2011)
  24. Kleijnen MF, Shih AH, Zhou P, Kumar S, Soccio RE, Kedersha NL, Gill G, Howley PM (2000) The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. Mol Cell 6:409–419 (10.1016/S1097-2765(00)00040-X) / Mol Cell by MF Kleijnen (2000)
  25. Kleyweg RP, van der Meche FG, Schmitz PI (1991) Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain–Barre syndrome. Muscle Nerve 14:1103–1109 (10.1002/mus.880141111) / Muscle Nerve by RP Kleyweg (1991)
  26. Ko HS, Uehara T, Tsuruma K, Nomura Y (2004) Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. FEBS Lett 566:110–114 (10.1016/j.febslet.2004.04.031) / FEBS Lett by HS Ko (2004)
  27. Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S (2009) TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 24:1843–1847 (10.1002/mds.22701) / Mov Disord by GG Kovacs (2009)
  28. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205–1208 (10.1126/science.1166066) / Science by TJ Kwiatkowski Jr (2009)
  29. Lezak M (1983) Neuropsychological assessment. Oxford University Press, New York / Neuropsychological assessment by M Lezak (1983)
  30. Libon DJ, Massimo L, Moore P, Coslett HB, Chatterjee A, Aguirre GK, Rice A, Vesely L, Grossman M (2007) Screening for frontotemporal dementias and Alzheimer’s disease with the Philadelphia Brief Assessment of Cognition: a preliminary analysis. Dement Geriatr Cogn Disord 24:441–447 (10.1159/000110577) / Dement Geriatr Cogn Disord by DJ Libon (2007)
  31. Lim PJ, Danner R, Liang J, Doong H, Harman C, Srinivasan D, Rothenberg C, Wang H, Ye Y, Fang S, Monteiro MJ (2009) Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD. J Cell Biol 187:201–217 (10.1083/jcb.200903024) / J Cell Biol by PJ Lim (2009)
  32. Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jaros E, Perry RH, Trojanowski JQ, Mann DM, Lee VM (2011) A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122:111–113 (10.1007/s00401-011-0845-8) / Acta Neuropathol by IR Mackenzie (2011)
  33. Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM (2010) Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 119:1–4 (10.1007/s00401-009-0612-2) / Acta Neuropathol by IR Mackenzie (2010)
  34. Mah AL, Perry G, Smith MA, Monteiro MJ (2000) Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation. J Cell Biol 151:847–862 (10.1083/jcb.151.4.847) / J Cell Biol by AL Mah (2000)
  35. Massey LK, Mah AL, Monteiro MJ (2005) Ubiquilin regulates presenilin endoproteolysis and modulates gamma-secretase components, Pen-2 and nicastrin. Biochem J 391:513–525 (10.1042/BJ20050491) / Biochem J by LK Massey (2005)
  36. Murray ME, Dejesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW (2011) Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122:673–690 (10.1007/s00401-011-0907-y) / Acta Neuropathol by ME Murray (2011)
  37. N’Diaye EN, Kajihara KK, Hsieh I, Morisaki H, Debnath J, Brown EJ (2009) PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation. EMBO Rep 10:173–179 (10.1038/embor.2008.238) / EMBO Rep by EN N’Diaye (2009)
  38. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51:1546–1554 (10.1212/WNL.51.6.1546) / Neurology by D Neary (1998)
  39. Neumann M, Kwong LK, Lee EB, Kremmer E, Flatley A, Xu Y, Forman MS, Troost D, Kretzschmar HA, Trojanowski JQ, Lee VM (2009) Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol 117:137–149 (10.1007/s00401-008-0477-9) / Acta Neuropathol by M Neumann (2009)
  40. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133 (10.1126/science.1134108) / Science by M Neumann (2006)
  41. Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456–2477 (10.1093/brain/awr179) / Brain by K Rascovsky (2011)
  42. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268 (10.1016/j.neuron.2011.09.010) / Neuron by AE Renton (2011)
  43. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62 (10.1038/362059a0) / Nature by DR Rosen (1993)
  44. Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC (2003) Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 126:2016–2022 (10.1093/brain/awg204) / Brain by SM Rosso (2003)
  45. Rothenberg C, Monteiro MJ (2010) Ubiquilin at a crossroads in protein degradation pathways. Autophagy 6:979–980 (10.4161/auto.6.7.13118) / Autophagy by C Rothenberg (2010)
  46. Rothenberg C, Srinivasan D, Mah L, Kaushik S, Peterhoff CM, Ugolino J, Fang S, Cuervo AM, Nixon RA, Monteiro MJ (2010) Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy. Hum Mol Genet 19:3219–3232 (10.1093/hmg/ddq231) / Hum Mol Genet by C Rothenberg (2010)
  47. Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R (2008) Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4:e1000193 (10.1371/journal.pgen.1000193) / PLoS Genet by NJ Rutherford (2008)
  48. Schnell SA, Staines WA, Wessendorf MW (1999) Reduction of lipofuscin-like autofluorescence in fluorescently labeled tissue. J Histochem Cytochem 47:719–730 (10.1177/002215549904700601) / J Histochem Cytochem by SA Schnell (1999)
  49. Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC (2012) The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain [Epub ahead of print] (10.1093/brain/awr353)
  50. Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, Duplessis D, Neary D, Mann DM, Pickering-Brown SM (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain [Epub ahead of print] (10.1093/brain/awr355)
  51. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668–1672 (10.1126/science.1154584) / Science by J Sreedharan (2008)
  52. Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, Dejesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 123:409–417 (10.1007/s00401-011-0937-5) / Acta Neuropathol by H Stewart (2012)
  53. Stieren ES, El Ayadi A, Xiao Y, Siller E, Landsverk ML, Oberhauser AF, Barral JM, Boehning D (2011) Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein. J Biol Chem 286:35689–35698 (10.1074/jbc.M111.243147) / J Biol Chem by ES Stieren (2011)
  54. Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklos L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobagyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S (2011) An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology [Epub ahead of print] (10.1111/j.1440-1789.2011.01286.x)
  55. Uryu K, Nakashima-Yasuda H, Forman MS, Kwong LK, Clark CM, Grossman M, Miller BL, Kretzschmar HA, Lee VM, Trojanowski JQ, Neumann M (2008) Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol 67:555–564 (10.1097/NEN.0b013e31817713b5) / J Neuropathol Exp Neurol by K Uryu (2008)
  56. Van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C (2010) Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74:366–371 (10.1212/WNL.0b013e3181ccc732) / Neurology by T Langenhove Van (2010)
  57. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211 (10.1126/science.1165942) / Science by C Vance (2009)
  58. Viswanathan J, Haapasalo A, Bottcher C, Miettinen R, Kurkinen KM, Lu A, Thomas A, Maynard CJ, Romano D, Hyman BT, Berezovska O, Bertram L, Soininen H, Dantuma NP, Tanzi RE, Hiltunen M (2011) Alzheimer’s disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation. Traffic 12:330–348 (10.1111/j.1600-0854.2010.01149.x) / Traffic by J Viswanathan (2011)
  59. Wang H, Lim PJ, Yin C, Rieckher M, Vogel BE, Monteiro MJ (2006) Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington’s disease by ubiquilin. Hum Mol Genet 15:1025–1041 (10.1093/hmg/ddl017) / Hum Mol Genet by H Wang (2006)
  60. Wang H, Monteiro MJ (2007) Ubiquilin interacts and enhances the degradation of expanded-polyglutamine proteins. Biochem Biophys Res Commun 360:423–427 (10.1016/j.bbrc.2007.06.097) / Biochem Biophys Res Commun by H Wang (2007)
  61. Wang H, Monteiro MJ (2007) Ubiquilin overexpression reduces GFP-polyalanine-induced protein aggregates and toxicity. Exp Cell Res 313:2810–2820 (10.1016/j.yexcr.2007.04.006) / Exp Cell Res by H Wang (2007)
  62. Wooten MW, Hu X, Babu JR, Seibenhener ML, Geetha T, Paine MG, Wooten MC (2006) Signaling, polyubiquitination, trafficking, and inclusions: sequestosome 1/p62’s role in neurodegenerative disease. J Biomed Biotechnol 2006:62079 (10.1155/JBB/2006/62079) / J Biomed Biotechnol by MW Wooten (2006)
  63. Wu AL, Wang J, Zheleznyak A, Brown EJ (1999) Ubiquitin-related proteins regulate interaction of vimentin intermediate filaments with the plasma membrane. Mol Cell 4:619–625 (10.1016/S1097-2765(00)80212-9) / Mol Cell by AL Wu (1999)
Dates
Type When
Created 13 years, 5 months ago (March 17, 2012, 10:27 a.m.)
Deposited 6 years, 2 months ago (June 25, 2019, 1:16 p.m.)
Indexed 5 days, 17 hours ago (Aug. 30, 2025, 12:41 p.m.)
Issued 13 years, 5 months ago (March 18, 2012)
Published 13 years, 5 months ago (March 18, 2012)
Published Online 13 years, 5 months ago (March 18, 2012)
Published Print 13 years, 3 months ago (June 1, 2012)
Funders 0

None

@article{Brettschneider_2012, title={Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion}, volume={123}, ISSN={1432-0533}, url={http://dx.doi.org/10.1007/s00401-012-0970-z}, DOI={10.1007/s00401-012-0970-z}, number={6}, journal={Acta Neuropathologica}, publisher={Springer Science and Business Media LLC}, author={Brettschneider, Johannes and Van Deerlin, Vivianna M. and Robinson, John L. and Kwong, Linda and Lee, Edward B. and Ali, Yousuf O. and Safren, Nathaniel and Monteiro, Mervyn J. and Toledo, Jon B. and Elman, Lauren and McCluskey, Leo and Irwin, David J. and Grossman, Murray and Molina-Porcel, Laura and Lee, Virginia M.-Y. and Trojanowski, John Q.}, year={2012}, month=mar, pages={825–839} }