Mutations of optineurin in amyotrophic lateral sclerosis (original) (raw)

References

1. Leigh, P. N. in Handbook of Clinical Neurology: Amyotrophic Lateral Sclerosis Vol. 82 (eds Eisen, A. A. & Shaw, P. J.) 249–278 (Elsevier, 2007)
   Google Scholar
2. Rosen, D. R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993)
   Article ADS CAS PubMed Google Scholar
3. Greenway, M. J. et al. ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nature Genet. 38, 411–413 (2006)
   Article CAS PubMed Google Scholar
4. Sreedharan, J. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668–1672 (2008)
   Article ADS CAS PubMed PubMed Central Google Scholar
5. Kwiatkowski, T. J. et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205–1208 (2009)
   Article ADS CAS PubMed Google Scholar
6. Vance, C. et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208–1211 (2009)
   Article ADS CAS PubMed PubMed Central Google Scholar
7. Rezaie, T. et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295, 1077–1079 (2002)
   Article ADS CAS PubMed Google Scholar
8. Huqun et al. Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis. Am. J. Respir. Crit. Care Med. 175, 263–268 (2007)
   Article CAS PubMed Google Scholar
9. Li, Y., Kang, J. & Horwitz, M. S. Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol. Cell. Biol. 18, 1601–1610 (1998)
   Article CAS PubMed PubMed Central Google Scholar
10. Schwamborn, K., Weil, R., Courtois, G., Whiteside, S. T. & Iaraël, A. Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-κB-independent pathway. J. Biol. Chem. 275, 22780–22789 (2000)
    Article CAS PubMed Google Scholar
11. Wagner, S. et al. Ubiquitin binding mediates the NF-κB inhibitory potential of ABIN proteins. Oncogene 27, 3739–3745 (2008)
    Article CAS PubMed Google Scholar
12. Hattula, K. & Peränen, J. FIP-2, a coiled-coil protein, links hutingtin to Rab8 and modulates cellular morphogenesis. Curr. Biol. 10, 1603–1606 (2000)
    Article CAS PubMed Google Scholar
13. Sahlender, D. A. et al. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J. Cell Biol. 169, 285–295 (2005)
    Article CAS PubMed PubMed Central Google Scholar
14. Zhu, G., Wu, C. J. & Ashwell, J. D. Optineurin negatively regulates TNFα-induced NF-κB activation by competing with NEMO for ubiquitinated RIP. Curr. Biol. 17, 1438–1443 (2007)
    Article CAS PubMed Google Scholar
15. De Marco, N., Buono, M., Troise, F. & Diez-Roux, G. Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J. Biol. Chem. 281, 16147–16156 (2006)
    Article CAS PubMed Google Scholar
16. Chalasani, M. L., Balasubramanian, D. & Swarup, G. Focus on molecules: optineurin. Exp. Eye Res. 87, 1–2 (2008)
    Article CAS PubMed Google Scholar
17. Iwase, A. et al. The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study. Ophthalmology 111, 1641–1648 (2004)
    PubMed Google Scholar
18. Mrowka, R., Blüthgen, N. & Fähling, M. Seed-based systematic discovery of specific transcription factor target genes. FEBS J. 275, 3178–3192 (2008)
    Article CAS PubMed Google Scholar
19. Jiang, Y. M. et al. Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis. Ann. Neurol. 57, 236–251 (2005)
    Article CAS PubMed Google Scholar
20. Pizzi, M. & Spano, P. Distinct roles of diverse nuclear factor-κB complexes in neuropathological mechanisms. Eur. J. Pharmacol. 545, 22–28 (2006)
    Article CAS PubMed Google Scholar
21. Toro, D. et al. Mutant huntingtin impairs post-Golgi trafficking to lysozomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus. Mol. Biol. Cell 20, 1478–1492 (2009)
    Article PubMed PubMed Central Google Scholar
22. Takarada, T. et al. A protein–protein interaction of stress-responsive myosin VI endowed to inhibit neural progenitor self-replication with RNA binding protein, TLS, in murine hippocampus. J. Neurochem. 110, 1457–1468 (2009)
    Article CAS PubMed Google Scholar
23. Yoshimura, A. et al. Myosin-Va facilitates the accumulation of mRNA/protein complex in dendritic spines. Curr. Biol. 16, 2345–2351 (2006)
    Article CAS PubMed Google Scholar

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Acknowledgements

This work was supported in part by grants-in-aid from the Ministry of Education, Science, and Culture of Japan, by a grant from the Smoking Research Foundation to H. Kawakami, and by the Japan Science and Technology Agency, Core Research for Evolutional Science & Technology to T.T. We thank E. Nakajima for technical support, K. Nakayama, H. W. Shin, M. Omi and H. Nakamura for conducting some of the experiments, and T. Miki and K. Noda for providing some DNA samples and clinical information. This paper is dedicated to the patients and families who contributed to this project.

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Author notes

1. Hidefumi Ito
   Present address: Present address: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan.,

Authors and Affiliations

1. Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan
   Hirofumi Maruyama, Hiroyuki Morino, Masaki Kamada & Hideshi Kawakami
2. Department of Neurology, Kansai Medical University, Moriguchi 570-8506, Japan
   Hidefumi Ito, Yoshimi Kinoshita & Hirofumi Kusaka
3. Department of Clinical Neuroscience, University of Tokushima Graduate School, Tokushima 770-8503, Japan
   Yuishin Izumi, Masaki Kamada, Hiroyuki Nodera & Ryuji Kaji
4. Division of Developmental Biology, Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan
   Hidemasa Kato
5. Laboratory of Integrative Bioscience, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8553, Japan
   Yasuhito Watanabe & Toru Takumi
6. Faculty of Human Science, Hiroshima Bunkyo Women’s University, Hiroshima 731-0295, Japan
   Hidenori Suzuki
7. South Osaka Neurosurgical Hospital, Osakasayama 589-0011, Japan
   Osamu Komure
8. Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan
   Shinya Matsuura
9. Department of Neurology, Kobatake Hospital, Fukuyama 720-1142, Japan
   Keitaro Kobatake
10. Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama 700-8558, Japan
    Nobutoshi Morimoto & Koji Abe
11. Department of Neurology, Tohoku University School of Medicine, Sendai 980-8574, Japan
    Naoki Suzuki & Masashi Aoki
12. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan,
    Akihiro Kawata & Takeshi Hirai
13. Department of Neurology, Haematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan
    Takeo Kato
14. Department of Pathology, School of Medicine, Shiga University of Medical Science, Ohtsu 520-2192, Japan
    Kazumasa Ogasawara
15. Division of Neuropathology, Department of Pathology, Montefiore Medical Center, New York, New York 10467-2490, USA,
    Asao Hirano
16. Department of Respiratory Medicine, Saitama Medical University, Saitama 350-0495, Japan
    Koichi Hagiwara

Authors

1. Hirofumi Maruyama
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2. Hiroyuki Morino
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3. Hidefumi Ito
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4. Yuishin Izumi
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5. Hidemasa Kato
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6. Yasuhito Watanabe
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7. Yoshimi Kinoshita
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8. Masaki Kamada
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9. Hiroyuki Nodera
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10. Hidenori Suzuki
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11. Osamu Komure
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12. Shinya Matsuura
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13. Keitaro Kobatake
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14. Nobutoshi Morimoto
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15. Koji Abe
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16. Naoki Suzuki
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17. Masashi Aoki
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18. Akihiro Kawata
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19. Takeshi Hirai
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20. Takeo Kato
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21. Kazumasa Ogasawara
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22. Asao Hirano
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23. Toru Takumi
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24. Hirofumi Kusaka
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25. Koichi Hagiwara
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26. Ryuji Kaji
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27. Hideshi Kawakami
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Contributions

Author Contributions H. Kawakami designed and supervised the study. H.Mo. and K.H. extracted candidate genes. H.Ma. and M.K. performed sequencing analysis. H.Ma., H.Mo., Y.W., T.T., S.M., H. Kawakami and H.S. conducted molecular biological analysis. H.I., Y.K., H. Ku., H. Kato, K.O. and A.H. performed pathological analysis and provided pathological samples. Y.I., H.N., R.K., O.K., N.M., K.A., A.K., T.H, T.K., M.A., N.S. and K.K. collected clinical information and samples. H. Kawakami, H.Ma., H.I. and K.H. wrote the paper.

Corresponding author

Correspondence toHideshi Kawakami.

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Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Information

This file contains Supplementary Tables 2 and 4, Supplementary Figures 1-9 with legends, Supplementary Patient Information and Supplementary Notes and References. (PDF 7299 kb)

Supplementary Table 1

This file contains the SNP typing of subjects 1, 2, 3 and 4. (PDF 253 kb)

Supplementary Table 3

This file contains the SNP typing of subjects 5, 6, 7 and 8. (PDF 641 kb)

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Maruyama, H., Morino, H., Ito, H. et al. Mutations of optineurin in amyotrophic lateral sclerosis.Nature 465, 223–226 (2010). https://doi.org/10.1038/nature08971

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• Received: 17 August 2009
• Accepted: 02 March 2010
• Published: 28 April 2010
• Issue Date: 13 May 2010
• DOI: https://doi.org/10.1038/nature08971