Novel in-frame duplication variant of <i>SOD1</i> in a Japanese family with familial amyotrophic lateral sclerosis
We identified a novel in-frame duplication variant in the C-terminus of β7 of SOD1. This genotype-structure-phenotype study of SOD1 provides valuable insights into disease-causing mechanisms.
Authors
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Yuichi Riku (ORCID: https://orcid.org/0000-0002-6493-8976)
- Takashi Yamada (ORCID: https://orcid.org/0000-0003-1797-3880)
- Hiroya Naruse (ORCID: https://orcid.org/0000-0002-1190-0499)
- Naoki Kotsuki (ORCID: https://orcid.org/0009-0005-2799-6922)
- Ayumi Uchibori
- Shin‐ichi Tokushige (ORCID: https://orcid.org/0000-0001-6951-1245)
- Tatsushi Toda (ORCID: https://orcid.org/0000-0002-0717-1123)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- Yasushi Iwasaki (ORCID: https://orcid.org/0000-0002-0059-3104)
- Hiroyuki Yabata (ORCID: https://orcid.org/0000-0003-3783-7077)
- Makoto Urushitani (ORCID: https://orcid.org/0000-0003-2773-9836)
- Yaeko Ichikawa
- Masanori Nakajima (ORCID: https://orcid.org/0009-0003-4939-1639)
- Takashi Matsukawa (ORCID: https://orcid.org/0000-0002-5925-9450)
- Shimon Ishida
- Kentaro Nagai
- Kunihiro Ueda
- Chizuko Oishi
- N. Moro
- Y Nakamura
Institutions
- Shiga University of Medical Science (JP)
- Okayama University (JP)
- Aichi Medical University (JP)
- Kyorin University (JP)
- National Center of Neurology and Psychiatry (JP)
- Precision for Medicine (United States) (US)
- Precision Research (United States) (US)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
- Osaka University of Pharmaceutical Sciences (JP)
Publication Details
- Journal
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
- Published
- 2025-12-03
- DOI
- https://doi.org/10.1080/21678421.2025.2593302
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00