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Guo, Q., Lehmer, C., Martínez-Sánchez, A., Rudack, T., Beck, F., Hartmann, H., Pérez-Berlanga, M., Frottin, F., Hipp, M. S., Hartl, F. U., Edbauer, D., Baumeister, W., & Fernández-Busnadiego, R. (2018). In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment. Cell, 172(4), 696-705.e12.

Authors 13
  1. Qiang Guo (first)
  2. Carina Lehmer (additional)
  3. Antonio Martínez-Sánchez (additional)
  4. Till Rudack (additional)
  5. Florian Beck (additional)
  6. Hannelore Hartmann (additional)
  7. Manuela Pérez-Berlanga (additional)
  8. Frédéric Frottin (additional)
  9. Mark S. Hipp (additional)
  10. F. Ulrich Hartl (additional)
  11. Dieter Edbauer (additional)
  12. Wolfgang Baumeister (additional)
  13. Rubén Fernández-Busnadiego (additional)
References 94 Referenced 351
  1. 10.1126/science.1261197 / Science / Proteasomes. A molecular census of 26S proteasomes in intact neurons by Asano (2015)
  2. 10.1016/j.neuron.2013.02.004 / Neuron / Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS by Ash (2013)
  3. 10.1073/pnas.1510449112 / Proc. Natl. Acad. Sci. USA / Structural characterization of the interaction of Ubp6 with the 26S proteasome by Aufderheide (2015)
  4. 10.1038/nsmb.3075 / Nat. Struct. Mol. Biol. / Ubp6 deubiquitinase controls conformational dynamics and substrate degradation of the 26S proteasome by Bashore (2015)
  5. 10.1016/j.cell.2017.08.009 / Cell / In situ architecture and cellular interactions of polyQ inclusions by Bauerlein (2017)
  6. 10.1016/j.tcb.2016.08.006 / Trends Cell Biol. / Cryo-electron tomography: can it reveal the molecular sociology of cells in atomic detail? by Beck (2016)
  7. 10.1016/j.molcel.2004.12.021 / Mol. Cell / Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation by Bennett (2005)
  8. 10.1038/nprot.2016.124 / Nat. Protoc. / Resolving macromolecular structures from electron cryo-tomography data using subtomogram averaging in RELION by Bharat (2016)
  9. 10.1074/jbc.M115.694273 / J. Biol. Chem. / The glycine-alanine dipeptide repeat from C9orf72 hexanucleotide expansions forms toxic amyloids possessing cell-to-cell transmission properties by Chang (2016)
  10. 10.1073/pnas.1614614113 / Proc. Natl. Acad. Sci. USA / Structural basis for dynamic regulation of the human 26S proteasome by Chen (2016)
  11. 10.1016/j.str.2016.05.018 / Structure / Structures of Rpn1 T1:Rad23 and hRpn13:hPLIC2 reveal distinct binding mechanisms between substrate receptors and shuttle factors of the proteasome by Chen (2016)
  12. 10.1093/hmg/ddn319 / Hum. Mol. Genet. / Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis by Cheroni (2009)
  13. 10.1016/j.cell.2017.04.023 / Cell / The logic of the 26S proteasome by Collins (2017)
  14. 10.3389/fnmol.2014.00070 / Front. Mol. Neurosci. / The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solution by Dantuma (2014)
  15. 10.1038/75406 / Nat. Biotechnol. / Short-lived green fluorescent proteins for quantifying ubiquitin/proteasome-dependent proteolysis in living cells by Dantuma (2000)
  16. 10.1002/path.4872 / J. Pathol. / Nuclear inclusion bodies of mutant and wild-type p53 in cancer: a hallmark of p53 inactivation and proteostasis remodelling by p53 aggregation by De Smet (2017)
  17. 10.1016/j.neuron.2011.09.011 / Neuron / Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS by DeJesus-Hernandez (2011)
  18. 10.1038/nature10353 / Nature / Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia by Deng (2011)
  19. 10.1038/emboj.2011.224 / EMBO J. / Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry by Deriziotis (2011)
  20. 10.1016/j.conb.2015.10.009 / Curr. Opin. Neurobiol. / An amyloid-like cascade hypothesis for C9orf72 ALS/FTD by Edbauer (2016)
  21. 10.1038/ncb845 / Nat. Cell Biol. / Proteasome subunit Rpn1 binds ubiquitin-like protein domains by Elsasser (2002)
  22. 10.1016/j.bpj.2015.10.043 / Biophys. J. / Removing contamination-induced reconstruction artifacts from cryo-electron tomograms by Fernandez (2016)
  23. 10.1016/j.tibs.2015.10.009 / Trends Biochem. Sci. / Gates, channels, and switches: Elements of the [proteasome machine by Finley (2016)
  24. 10.3389/fnmol.2017.00035 / Front. Mol. Neurosci. / The role of dipeptide repeats in C9ORF72-related ALS-FTD by Freibaum (2017)
  25. {'key': '10.1016/j.cell.2017.12.030_bib25', 'first-page': 'a024224', 'article-title': 'Disease mechanisms of C9ORF72 repeat expansions', 'author': 'Gendron', 'year': '2017', 'journal-title': 'Cold Spring Harb. Perspect. Med.'} / Cold Spring Harb. Perspect. Med. / Disease mechanisms of C9ORF72 repeat expansions by Gendron (2017)
  26. 10.1007/s00401-013-1192-8 / Acta Neuropathol. / Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS by Gendron (2013)
  27. 10.1146/annurev-biophys-062215-011113 / Annu. Rev. Biophys. / Computational methodologies for real-space structural refinement of large macromolecular complexes by Goh (2016)
  28. 10.1038/80384 / Nat. Med. / Basic medical research award. The ubiquitin system by Hershko (2000)
  29. 10.1007/978-1-61779-474-2_33 / Methods Mol. Biol. / Live-cell imaging of ubiquitin-proteasome system function by Hipp (2012)
  30. 10.1083/jcb.201110093 / J. Cell Biol. / Indirect inhibition of 26S proteasome activity in a cellular model of Huntington’s disease by Hipp (2012)
  31. 10.1016/j.tcb.2014.05.003 / Trends Cell Biol. / Proteostasis impairment in protein-misfolding and -aggregation diseases by Hipp (2014)
  32. 10.1074/jbc.274.39.28019 / J. Biol. Chem. / Interaction of hHR23 with S5a. The ubiquitin-like domain of hHR23 mediates interaction with S5a subunit of 26 S proteasome by Hiyama (1999)
  33. 10.1016/j.cell.2016.07.001 / Cell / UBQLN2 mediates autophagy-independent protein aggregate clearance by the proteasome by Hjerpe (2016)
  34. 10.1038/sj.emboj.7601058 / EMBO J. / Glycine-alanine repeats impair proper substrate unfolding by the proteasome by Hoyt (2006)
  35. 10.1016/j.jsb.2011.12.003 / J. Struct. Biol. / PyTom: a python-based toolbox for localization of macromolecules in cryo-electron tomograms and subtomogram analysis by Hrabe (2012)
  36. 10.1038/nsmb.3273 / Nat. Struct. Mol. Biol. / An atomic structure of the human 26S proteasome by Huang (2016)
  37. 10.1016/0263-7855(96)00018-5 / J. Mol. Graph. / VMD: visual molecular dynamics by Humphrey (1996)
  38. 10.1016/j.neuron.2010.11.036 / Neuron / Exome sequencing reveals VCP mutations as a cause of familial ALS by Johnson (2010)
  39. 10.1038/nn.4085 / Nat. Neurosci. / Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS by Jovičić (2015)
  40. 10.1038/nature14427 / Nature / Structure of the human 80S ribosome by Khatter (2015)
  41. 10.1038/nsmb1335 / Nat. Struct. Mol. Biol. / Stability of the proteasome can be regulated allosterically through engagement of its proteolytic active sites by Kleijnen (2007)
  42. 10.1038/nrm3810 / Nat. Rev. Mol. Cell Biol. / The amyloid state and its association with protein misfolding diseases by Knowles (2014)
  43. 10.1074/jbc.M113.512533 / J. Biol. Chem. / Slippery substrates impair ATP-dependent protease function by slowing unfolding by Kraut (2013)
  44. 10.1006/jsbi.1996.0013 / J. Struct. Biol. / Computer visualization of three-dimensional image data using IMOD by Kremer (1996)
  45. 10.1038/emboj.2010.167 / EMBO J. / ADAM10 is the physiologically relevant, constitutive alpha-secretase of the amyloid precursor protein in primary neurons by Kuhn (2010)
  46. 10.1016/j.celrep.2013.10.049 / Cell Rep. / Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic by Lee (2013)
  47. 10.1016/S1097-2765(02)00638-X / Mol. Cell / Multiple associated proteins regulate proteasome structure and function by Leggett (2002)
  48. 10.1016/j.str.2012.03.007 / Structure / The molecular architecture of the eukaryotic chaperonin TRiC/CCT by Leitner (2012)
  49. 10.1073/pnas.94.23.12616 / Proc. Natl. Acad. Sci. USA / Inhibition of ubiquitin/proteasome-dependent protein degradation by the Gly-Ala repeat domain of the Epstein-Barr virus nuclear antigen 1 by Levitskaya (1997)
  50. 10.1038/nmeth.2472 / Nat. Methods / Electron counting and beam-induced motion correction enable near-atomic-resolution single-particle cryo-EM by Li (2013)
  51. 10.1016/bs.ctdb.2016.07.004 / Curr. Top. Dev. Biol. / Amyotrophic lateral sclerosis pathogenesis converges on defects in protein homeostasis associated with TDP-43 mislocalization and proteasome-mediated degradation overload by Lin (2017)
  52. 10.1126/science.1250834 / Science / Substrate degradation by the proteasome: a single-molecule kinetic analysis by Lu (2015)
  53. 10.1016/j.str.2005.02.005 / Structure / Morphological characterization of molecular complexes present in the synaptic cleft by Lucić (2005)
  54. 10.1007/s00401-013-1181-y / Acta Neuropathol. / Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations by Mackenzie (2013)
  55. 10.1007/s00401-015-1476-2 / Acta Neuropathol. / Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers by Mackenzie (2015)
  56. 10.1016/S1474-4422(12)70043-1 / Lancet Neurol. / Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study by Majounie (2012)
  57. 10.1016/j.jsb.2014.02.015 / J. Struct. Biol. / Robust membrane detection based on tensor voting for electron tomography by Martinez-Sanchez (2014)
  58. 10.1016/j.jsb.2005.07.007 / J. Struct. Biol. / Automated electron microscope tomography using robust prediction of specimen movements by Mastronarde (2005)
  59. 10.1007/s00401-014-1329-4 / Acta Neuropathol. / C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration by May (2014)
  60. 10.1007/s00401-013-1189-3 / Acta Neuropathol. / Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins by Mori (2013)
  61. 10.1126/science.1232927 / Science / The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS by Mori (2013)
  62. 10.1093/emboj/cdg467 / EMBO J. / Structural determinants for the binding of ubiquitin-like domains to the proteasome by Mueller (2003)
  63. 10.1038/nm.4011 / Nat. Med. / Tau-driven 26S proteasome impairment and cognitive dysfunction can be prevented early in disease by activating cAMP-PKA signaling by Myeku (2016)
  64. 10.1016/j.jsb.2004.10.006 / J. Struct. Biol. / TOM software toolbox: acquisition and analysis for electron tomography by Nickell (2005)
  65. 10.1016/j.cell.2010.11.050 / Cell / Amyloid-like aggregates sequester numerous metastable proteins with essential cellular functions by Olzscha (2011)
  66. 10.1016/j.cell.2013.06.003 / Cell / PolyQ proteins interfere with nuclear degradation of cytosolic proteins by sequestering the Sis1p chaperone by Park (2013)
  67. 10.1002/jcc.20084 / J. Comput. Chem. / UCSF Chimera--a visualization system for exploratory research and analysis by Pettersen (2004)
  68. 10.1002/jcc.20289 / J. Comput. Chem. / Scalable molecular dynamics with NAMD by Phillips (2005)
  69. 10.1016/j.neuron.2011.09.010 / Neuron / A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD by Renton (2011)
  70. 10.1038/srep26536 / Sci. Rep. / QwikMD-Integrative molecular dynamics toolkit for novices and experts by Ribeiro (2016)
  71. 10.1073/pnas.1201333109 / Proc. Natl. Acad. Sci. USA / Focused ion beam micromachining of eukaryotic cells for cryoelectron tomography by Rigort (2012)
  72. 10.1038/nmeth.2115 / Nat. Methods / Prevention of overfitting in cryo-EM structure determination by Scheres (2012)
  73. 10.1038/nmeth.2019 / Nat. Methods / Fiji: an open-source platform for biological-image analysis by Schindelin (2012)
  74. 10.1007/s00401-017-1711-0 / Acta Neuropathol. / Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss by Schludi (2017)
  75. 10.1016/j.bbamcr.2013.08.012 / Biochim. Biophys. Acta / Regulation of proteasome activity in health and disease by Schmidt (2014)
  76. {'year': '2006', 'author': 'Schroeder', 'series-title': 'The Visualization Toolkit: an object-oriented approach to 3D graphics', 'key': '10.1016/j.cell.2017.12.030_bib76'} / The Visualization Toolkit: an object-oriented approach to 3D graphics by Schroeder (2006)
  77. 10.1073/pnas.1608050113 / Proc. Natl. Acad. Sci. USA / Structure of the human 26S proteasome at a resolution of 3.9 Å by Schweitzer (2016)
  78. 10.1126/science.aad9421 / Science / Rpn1 provides adjacent receptor sites for substrate binding and deubiquitination by the proteasome by Shi (2016)
  79. {'key': '10.1016/j.cell.2017.12.030_bib79', 'first-page': '12', 'article-title': 'Characterization of the brain 26S proteasome and its interacting proteins', 'volume': '3', 'author': 'Tai', 'year': '2010', 'journal-title': 'Front. Mol. Neurosci.'} / Front. Mol. Neurosci. / Characterization of the brain 26S proteasome and its interacting proteins by Tai (2010)
  80. 10.1074/jbc.M112.417600 / J. Biol. Chem. / Motor neuron-specific disruption of proteasomes, but not autophagy, replicates amyotrophic lateral sclerosis by Tashiro (2012)
  81. 10.1017/S1431927608080781 / Microsc. Microanal. / An improved cryogen for plunge freezing by Tivol (2008)
  82. 10.1016/j.ymeth.2009.04.005 / Methods / Molecular dynamics flexible fitting: a practical guide to combine cryo-electron microscopy and X-ray crystallography by Trabuco (2009)
  83. 10.1073/pnas.1403409111 / Proc. Natl. Acad. Sci. USA / Deep classification of a large cryo-EM dataset defines the conformational landscape of the 26S proteasome by Unverdorben (2014)
  84. 10.1002/humu.22244 / Hum. Mutat. / A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats by van der Zee (2013)
  85. 10.1091/mbc.12.5.1393 / Mol. Biol. Cell / Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation by Waelter (2001)
  86. 10.1021/bi011892y / Biochemistry / Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a by Walters (2002)
  87. 10.1038/ng1332 / Nat. Genet. / Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein by Watts (2004)
  88. 10.1073/pnas.1621129114 / Proc. Natl. Acad. Sci. USA / Structural insights into the functional cycle of the ATPase module of the 26S proteasome by Wehmer (2017)
  89. 10.1093/hmg/ddu576 / Hum. Mol. Genet. / Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS by Yamakawa (2015)
  90. 10.1038/nsmb.3309 / Nat. Struct. Mol. Biol. / Staggered ATP binding mechanism of eukaryotic chaperonin TRiC (CCT) revealed through high-resolution cryo-EM by Zang (2016)
  91. 10.1007/s00401-014-1336-5 / Acta Neuropathol. / Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress by Zhang (2014)
  92. 10.1038/nn.4272 / Nat. Neurosci. / C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins by Zhang (2016)
  93. 10.1073/pnas.1013343108 / Proc. Natl. Acad. Sci. USA / Non-ATG-initiated translation directed by microsatellite expansions by Zu (2011)
  94. 10.1073/pnas.1315438110 / Proc. Natl. Acad. Sci. USA / RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia by Zu (2013)
Dates
Type When
Created 7 years, 6 months ago (Feb. 1, 2018, 1:22 p.m.)
Deposited 5 years, 2 months ago (May 25, 2020, 12:08 a.m.)
Indexed 1 day, 16 hours ago (Aug. 20, 2025, 8:37 a.m.)
Issued 7 years, 6 months ago (Feb. 1, 2018)
Published 7 years, 6 months ago (Feb. 1, 2018)
Published Print 7 years, 6 months ago (Feb. 1, 2018)
Funders 9
  1. EMBO 10.13039/501100003043
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@article{Guo_2018, title={In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment}, volume={172}, ISSN={0092-8674}, url={http://dx.doi.org/10.1016/j.cell.2017.12.030}, DOI={10.1016/j.cell.2017.12.030}, number={4}, journal={Cell}, publisher={Elsevier BV}, author={Guo, Qiang and Lehmer, Carina and Martínez-Sánchez, Antonio and Rudack, Till and Beck, Florian and Hartmann, Hannelore and Pérez-Berlanga, Manuela and Frottin, Frédéric and Hipp, Mark S. and Hartl, F. Ulrich and Edbauer, Dieter and Baumeister, Wolfgang and Fernández-Busnadiego, Rubén}, year={2018}, month=feb, pages={696-705.e12} }