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Physiological Role of Mysterin/RNF213 in Zebrafish

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Moyamoya Disease Explored Through RNF213

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Abstract

Mysterin, also known as RNF213, is a very large intracellular protein of 591 kDa with unknown function. Long-standing genetic analyses ultimately revealed that its C-terminal mutation (R4810K) is the key genetic factor for moyamoya disease, an inheritable idiopathic cerebrovascular disorder with arterial stenosis and occlusion at a limited site in the brain. Although the pathologic mechanism has remained largely unclear, a leading hypothesis is that mysterin plays a role in the blood vessel and that the R4810K mutation interferes with the vascular function of mysterin, resulting in the development of moyamoya disease. The first evidence that mysterin participates in normal vascular structure and/or function was obtained from zebrafish, a powerful model vertebrate. In this chapter, we overview the vascular and other phenotypes of mysterin knockdown/knockout zebrafish and discuss its possible roles in vivo.

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Acknowledgments

We thank Ayano Kasai (Kyoto Sangyo University) for the artwork. This work was supported by MEXT JSPS/KAKENHI (15K07062 and 15H01546 to D.M. and 24227009 to K.N.).

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Authors and Affiliations

  1. Institute of Protein Dynamics, Kyoto Sangyo University, Motoyama, Kamigamo, Kita-ku, Kyoto, 603-8555, Japan

    Daisuke Morito & Kazuhiro Nagata

  2. CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan

    Daisuke Morito & Kazuhiro Nagata

  3. Faculty of Life Sciences, Kyoto Sangyo University, Kyoto, Japan

    Kazuhiro Nagata

Authors
  1. Daisuke Morito
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  2. Kazuhiro Nagata
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Corresponding authors

Correspondence to Daisuke Morito or Kazuhiro Nagata .

Editor information

Editors and Affiliations

  1. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Akio Koizumi

  2. Faculty of Life Sciences, Kyoto Sangyo University, Kyoto, Japan

    Kazuhiro Nagata

  3. Department of Neurosurgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan

    Kiyohiro Houkin

  4. Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan

    Teiji Tominaga

  5. Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Susumu Miyamoto

  6. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

    Shigeo Kure

  7. CHU Paris‐GH St‐Louis Lariboisière F‐Widal, Hôpital Lariboisière, Paris, France

    Elizabeth Tournier-Lasserve

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© 2017 Springer Nature Singapore Pte Ltd.

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Morito, D., Nagata, K. (2017). Physiological Role of Mysterin/RNF213 in Zebrafish. In: Koizumi, A., et al. Moyamoya Disease Explored Through RNF213. Current Topics in Environmental Health and Preventive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-10-2711-6_5

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  • DOI: https://doi.org/10.1007/978-981-10-2711-6_5

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-2710-9

  • Online ISBN: 978-981-10-2711-6

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