UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia

Muscle and Nerve

Volumn 45, Issue 2, 2012, Pages 157-162

  Fecto, Faisal ^a   Siddique, Teepu ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Amyotrophic lateral sclerosis; Autophagy; Frontotemporal lobe dementia; P62; Protein degradation; SQSTM1; Ubiquilin 2; Ubiquitin proteasome system; UBQLN2

Indexed keywords

PROTEIN P62; UBIQUITIN; UBIQUITIN LIKE PROTEIN UBIQUILIN 2; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; DEGENERATIVE DISEASE; DOWNSTREAM PROCESSING; FRONTOTEMPORAL DEMENTIA; GENE INTERACTION; GENETIC ASSOCIATION; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; SYNAPSE;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN; CELL CYCLE PROTEINS; FRONTOTEMPORAL DEMENTIA; HUMANS; RNA-BINDING PROTEINS; UBIQUITINS;

EID: 84855860820     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23278     Document Type: Article

References (61)

1. Fecto F, Siddique T. Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci 2011;45:663-675.
2. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362: 59-62.
3. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-1672.
4. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008;40: 572-574.
5. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009;323:1208-1211.
6. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-1208.
7. Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465:223-226.
8. Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010;68:857-864.
9. Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 2011;68:1440-1446.
10. Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011;477:211-215.
11. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
12. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 Is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
13. Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, et al. 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 2011;122:691-702.
14. Kuusisto E, Salminen A, Alafuzoff I. Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies. Neuroreport 2001;12:2085-2090.
15. Zatloukal K, Stumptner C, Fuchsbichler A, Heid H, Schnoelzer M, Kenner L, et al. p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases. Am J Pathol 2002;160:255-263.
16. Deng HX, Bigio EH, Zhai H, Fecto F, Ajroud K, Shi Y, et al. Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Arch Neurol 2011;68:1057-1061.
17. Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 2009;187:875-888.
18. Ju JS, Weihl CC. Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. Hum Mol Genet 2010;19:R38-45.
19. Tresse E, Salomons FA, Vesa J, Bott LC, Kimonis V, Yao TP, et al. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy 2010;6:217-227.
20. Wild P, Farhan H, McEwan DG, Wagner S, Rogov VV, Brady NR, et al. Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 2011;333:228-233.
21. Michou L, Collet C, Laplanche JL, Orcel P, Cornelis F. Genetics of Paget's disease of bone. Joint Bone Spine 2006;73:243-248.
22. Albagha OM, Visconti MR, Alonso N, Langston AL, Cundy T, Dargie R, et al. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. Nat Genet 2010;42:520-524.
23. Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul Disord 2009;19:308-315.
24. Ko HS, Uehara T, Tsuruma K, Nomura Y. Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. FEBS Lett 2004;566:110-114.
25. Haapasalo A, Viswanathan J, Bertram L, Soininen H, Tanzi RE, Hiltunen M. Emerging role of Alzheimer's disease-associated ubiquilin-1 in protein aggregation. Biochem Soc Trans 2010;38:150-155.
26. Kim SH, Shi Y, Hanson KA, Williams LM, Sakasai R, Bowler MJ, et al. Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1. J Biol Chem 2009;284:8083-8092.
27. Hanson KA, Kim SH, Wassarman DA, Tibbetts RS. Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS). J Biol Chem 2010;285:11068-11072.
28. Wang X, Fan H, Ying Z, Li B, Wang H, Wang G. Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin- proteasome system. Neurosci Lett 2010;469:112-116.
29. Urushitani M, Sato T, Bamba H, Hisa Y, Tooyama I. Synergistic effect between proteasome and autophagosome in the clearance of polyubiquitinated TDP-43. J Neurosci Res 2010;88:784-97.
30. Brady OA, Meng P, Zheng Y, Mao Y, Hu F. Regulation of TDP-43 aggregation by phosphorylation and p62/SQSTM1. J Neurochem 2011;116:248-259.
31. Ding M, Shen K. The role of the ubiquitin proteasome system in synapse remodeling and neurodegenerative diseases. Bioessays 2008;30: 1075-1083.
32. Bedford L, Hay D, Devoy A, Paine S, Powe DG, Seth R, et al. Depletion of 26S proteasomes in mouse brain neurons causes neurodegeneration and Le1wy-like inclusions resembling human pale bodies. J Neurosci 2008;28:8189-8198.
33. Cheroni C, Marino M, Tortarolo M, Veglianese P, De Biasi S, Fontana E, et al. Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis. Hum Mol Genet 2009;18:82-96.
34. Hoffman EK, Wilcox HM, Scott RW, Siman R. Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis. J Neurol Sci 1996;139:15-20.
35. Johnston JA, Dalton MJ, Gurney ME, Kopito RR. Formation of high molecular weight complexes of mutant Cu,Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2000;97:12571-12576.
36. Hyun DH, Lee M, Halliwell B, Jenner P. Proteasomal inhibition causes the formation of protein aggregates containing a wide range of proteins, including nitrated proteins. J Neurochem 2003;86:363-373.
37. Puttaparthi K, Wojcik C, Rajendran B, DeMartino GN, Elliott JL. Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes. J Neurochem 2003; 87:851-860.
38. Di Noto L, Whitson LJ, Cao X, Hart PJ, Levine RL. Proteasomal degradation of mutant superoxide dismutases linked to amyotrophic lateral sclerosis. J Biol Chem 2005;280:39907-39913.
39. Kristiansen M, Deriziotis P, Dimcheff DE, Jackson GS, Ovaa H, Naumann H, et al. Disease-associated prion protein oligomers inhibit the 26S proteasome. Mol Cell 2007;26:175-188.
40. Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin- proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet 2005;14: 679-691.
41. Maynard CJ, Bottcher C, Ortega Z, Smith R, Florea BI, Diaz-Hernandez M, et al. Accumulation of ubiquitin conjugates in a polyglutamine disease model occurs without global ubiquitin/proteasome system impairment. Proc Natl Acad Sci USA 2009;106:13986-13991.
42. Tokui K, Adachi H, Waza M, Katsuno M, Minamiyama M, Doi H, et al. 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse. Hum Mol Genet 2009;18:898-910.
43. Mizushima N, Kuma A. Autophagosomes in GFP-LC3 transgenic mice. Methods Mol Biol 2008;445:119-124.
44. Tsvetkov AS, Mitra S, Finkbeiner S. Protein turnover differences between neurons and other cells. Autophagy 2009;5:1037-1038.
45. Hara T, Nakamura K, Matsui M, Yamamoto A, Nakahara Y, Suzuki- Migishima R, et al. Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 2006;441:885-889.
46. Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, Tanida I, et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 2006;441:880-884.
47. Nedelsky NB, Todd PK, Taylor JP. Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection. Biochim Biophys Acta 2008;1782:691-699.
48. Korolchuk VI, Mansilla A, Menzies FM, Rubinsztein DC. Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates. Mol Cell 2009;33:517-527.
49. Li L, Zhang X, Le W. Altered macroautophagy in the spinal cord of SOD1 mutant mice. Autophagy 2008;4:290-293.
50. Fornai F, Longone P, Cafaro L, Kastsiuchenka O, Ferrucci M, Manca ML, et al. Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2008;105:2052-2057.
51. Lee JA. Autophagy in neurodegeneration: two sides of the same coin. BMB Rep 2009;42:324-330.
52. Ferrucci M, Fulceri F, Toti L, Soldani P, Siciliano G, Paparelli A, et al. Protein clearing pathways in ALS. Arch Ital Biol 2011;149:121-149.
53. Sasaki S. Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2011;70:349-359.
54. Gal J, Strom AL, Kwinter DM, Kilty R, Zhang J, Shi P, et al. Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin- independent mechanism. J Neurochem 2009;111:1062-1073.
55. Venkatachalam K, Long AA, Elsaesser R, Nikolaeva D, Broadie K, Montell C. Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. Cell 2008;135: 838-851.
56. Laird FM, Farah MH, Ackerley S, Hoke A, Maragakis N, Rothstein JD, et al. Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J Neurosci 2008;28:1997-2005.
57. Klionsky DJ. Autophagy: from phenomenology to molecular understanding in less than a decade. Nat Rev Mol Cell Biol 2007;8:931-937.
58. N'Diaye EN, Kajihara KK, Hsieh I, Morisaki H, Debnath J, Brown EJ. PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation. EMBO Rep 2009;10:173-179.
59. Rothenberg C, Srinivasan D, Mah L, Kaushik S, Peterhoff CM, Ugolino J, et al. Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy. Hum Mol Genet 2010;19:3219-3232.
60. Rothenberg C, Monteiro MJ. Ubiquilin at a crossroads in protein degradation pathways. Autophagy 2010;6:979-980.
61. Komatsu M, Ichimura Y. Physiological significance of selective degradation of p62 by autophagy. FEBS Lett 2010;584:1374-1378.