Search in:

Amyotrophic Lateral Sclerosis Volume 13, 2012 - Issue 5

Journal homepage

Views

CrossRef citations to date

Altmetric

ORIGINAL ARTICLE

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation

Akinori NakamuraDepartment of Medicine (Neurology and Rheumatology)Correspondence[email protected]

Akiyo HinenoDepartment of Medicine (Neurology and Rheumatology)

Kunihiro YoshidaDivision of Neurogenetics, Department of Brain Disease Research

Yoshiki SekijimaDivision of Clinical and Molecular Genetics, Shinshu University School of Medicine

Naoko Hanaoka-TachibanaDepartment of Neurology, Okaya City Hospital, Okaya

Yo-Ichi TakeiDepartment of Neurology, National Chushin-Matsumoto Hospital, Matsumoto, Japan

Shinji OharaDepartment of Neurology, National Chushin-Matsumoto Hospital, Matsumoto, Japan

Shu-Ichi IkedaDepartment of Medicine (Neurology and Rheumatology)

show all

Pages 479-486 | Received 16 Oct 2011, Accepted 07 Jan 2012, Published online: 17 Sep 2012

Cite this article
https://doi.org/10.3109/17482968.2012.656311

Full Article
Figures & data
References
Citations
Metrics
Reprints & Permissions

Citations (13)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Articles from other publishers (13)

H Li, L Yuan, H Yang, Y Guo, W Zheng, K Fan, S Deng, L Gong, H Xu, Z Yang, J Cheng, M Kang & H Deng. (2023) Analysis of SOD1 variants in Chinese patients with familial amyotrophic lateral sclerosis . QJM: An International Journal of Medicine 116:5, pages 365-374.
Crossref

Ao Yun Zhang, Chad M. Dashnaw, Mayte Gonzalez, Jordan C. Koone, Nick A. Wells, Colin A. Smith, Matthew J. Guberman-Pfeffer & Bryan F. Shaw. (2023) Oxidation of Dueling Cysteine Promotes Subunit Exchange in SOD1. ACS Chemical Neuroscience.
Crossref

Itsuki Anzai, Eiichi Tokuda, Sumika Handa, Hidemi Misawa, Shuji Akiyama & Yoshiaki Furukawa. (2020) Oxidative misfolding of Cu/Zn-superoxide dismutase triggered by non-canonical intramolecular disulfide formation. Free Radical Biology and Medicine 147, pages 187-199.
Crossref

Eiichi Tokuda, Yo-ichi Takei, Shinji Ohara, Noriko Fujiwara, Isao Hozumi & Yoshiaki Furukawa. (2019) Wild-type Cu/Zn-superoxide dismutase is misfolded in cerebrospinal fluid of sporadic amyotrophic lateral sclerosis. Molecular Neurodegeneration 14:1.
Crossref

Eiichi Tokuda, Itsuki Anzai, Takao Nomura, Keisuke Toichi, Masahiko Watanabe, Shinji Ohara, Seiji Watanabe, Koji Yamanaka, Yuta Morisaki, Hidemi Misawa & Yoshiaki Furukawa. (2017) Immunochemical characterization on pathological oligomers of mutant Cu/Zn-superoxide dismutase in amyotrophic lateral sclerosis. Molecular Neurodegeneration 12:1.
Crossref

QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang & Hui-Fang Shang. (2017) Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review. Scientific Reports 7:1.
Crossref

Haishan Jiang, Hiroshi Shimizu, Atsushi Shiga, Masami Tanaka, Osamu Onodera, Akiyoshi Kakita & Hitoshi Takahashi. (2016) Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions. Neuropathology 37:1, pages 69-77.
Crossref

Yuta Morisaki, Mamiko Niikura, Mizuho Watanabe, Kosuke Onishi, Shogo Tanabe, Yasuhiro Moriwaki, Takashi Okuda, Shinji Ohara, Shigeo Murayama, Masaki Takao, Sae Uchida, Koji Yamanaka & Hidemi Misawa. (2016) Selective Expression of Osteopontin in ALS-resistant Motor Neurons is a Critical Determinant of Late Phase Neurodegeneration Mediated by Matrix Metalloproteinase-9. Scientific Reports 6:1.
Crossref

Akiyo Hineno, Kiyomitsu Oyanagi, Akinori Nakamura, Yoshio Shimojima, Kunihiro Yoshida & Shu-ichi Ikeda. (2016) Lower urinary tract dysfunction and neuropathological findings of the neural circuits controlling micturition in familial amyotrophic lateral sclerosis with L106V mutation in the <i>SOD1</i> gene. Rinsho Shinkeigaku 56:2, pages 69-76.
Crossref

Ashley J. Pratt, David S. Shin, Gregory E. Merz, Robert P. RamboW. Andrew Lancaster, Kevin N. DyerPeter P. Borbat, Farris L. PooleIIII, Michael W. W. Adams, Jack H. Freed, Brian R. Crane, John A. Tainer & Elizabeth D. Getzoff. (2014) Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes. Proceedings of the National Academy of Sciences 111:43.
Crossref

Akinori Nakamura, Satoshi Kuru, Akiyo Hineno, Chinatsu Kobayashi, Tomomi Kinoshita, Daigo Miyazaki & Shu-ichi Ikeda. (2014) Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene. Neurobiology of Aging 35:10, pages 2420.e7-2420.e12.
Crossref

Lina Leinartaitė & Ann-Sofi Johansson. (2013) Disulfide Scrambling in Superoxide Dismutase 1 Reduces Its Cytotoxic Effect in Cultured Cells and Promotes Protein Aggregation. PLoS ONE 8:10, pages e78060.
Crossref

Yo-ichi Takei, Kenya Oguchi, Hiroshi Koshihara, Akiyo Hineno, Akinori Nakamura & Shinji Ohara. (2013) α-Synuclein coaggregation in familial amyotrophic lateral sclerosis with SOD1 gene mutation. Human Pathology 44:6, pages 1171-1176.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Share icon
Back to Top

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.

People also read
Recommended articles
Cited by

To cite this article:

Reference style: APA Chicago Harvard

Citation copied to clipboard

Reference styles above use APA (6th edition), Chicago (16th edition) & Harvard (10th edition)

Download citation

Download a citation file in RIS format that can be imported by citation management software including EndNote, ProCite, RefWorks and Reference Manager.

Choose format: RIS BibTex RefWorks Direct Export

Choose options: Citation Citation & abstract Citation & references

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation

Articles from other publishers (13)

Information for

Open access

Opportunities

Help and information

Your download is now in progress and you may close this window

Login or register to access this feature

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation

Citations (13)

Articles from other publishers (13)

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date