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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 16, 2015 - Issue 5-6
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A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

Emma BeeldmanDepartment of Neurology, The NetherlandsCorrespondence[email protected]
,
Anneke J. van der KooiDepartment of Neurology, The Netherlands
,
Marianne de VisserDepartment of Neurology, The Netherlands
,
Merel C. van MaarleClinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands
,
Fred van RuissenClinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands
&
Frank BaasDepartment of Neurology, The Netherlands;Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands
Pages 410-411 | Received 03 Jan 2015, Accepted 25 May 2015, Published online: 23 Jul 2015

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Cyril Pottier, Evadnie Rampersaud, Matt Baker, Gang Wu, Joanne Wuu, Jacob L. McCauley, Stephan Zuchner, Rebecca Schule, Christin Bermudez, Sumaira Hussain, Anne Cooley, Marielle Wallace, Jinghui Zhang, J. Paul Taylor, Michael Benatar & Rosa Rademakers. (2018) Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:5-6, pages 469-471.
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Jennifer A. Fifita, Kelly L. Williams, Vinod Sundaramoorthy, Emily P. Mccann, Garth A. Nicholson, Julie D. Atkin & Ian P. Blair. (2017) A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18:1-2, pages 126-133.
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Afnan A Alsultan, Rachel Waller, Paul R Heath & Janine Kirby. (2016) The genetics of amyotrophic lateral sclerosis: current insights. Degenerative Neurological and Neuromuscular Disease 6, pages 49-64.
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Articles from other publishers (13)

Marta Cozzi & Veronica Ferrari. (2022) Autophagy Dysfunction in ALS: from Transport to Protein Degradation. Journal of Molecular Neuroscience 72:7, pages 1456-1481.
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Lu Yang, Yanfei Cheng, Xinmiao Jia, Xudong Liu, Xiuli Li, Kang Zhang, Dongchao Shen, Mingsheng Liu, Yuzhou Guan, Qing Liu, Liying Cui & Xiaoguang Li. (2021) Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China. Neurobiology of Aging 97, pages 149.e1-149.e8.
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Eleanna Stamatakou, Lidia Wróbel, Sandra Malmgren Hill, Claudia Puri, Sung Min Son, Motoki Fujimaki, Ye Zhu, Farah Siddiqi, Marian Fernandez-Estevez, Marco M. Manni, So Jung Park, Julien Villeneuve & David Chaim Rubinsztein. (2020) Mendelian neurodegenerative disease genes involved in autophagy. Cell Discovery 6:1.
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Shu‐Man Feng, Chun‐Hui Che, Shu‐Yan Feng, Chang‐Yun Liu, Liu‐Yi Li, Yuan‐Xiao Li, Hua‐Pin Huang & Zhang‐Yu Zou. (2019) Novel mutation in optineurin causing aggressive ALS+/−frontotemporal dementia. Annals of Clinical and Translational Neurology 6:12, pages 2377-2383.
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Sun-Hwa Lee & Kyoungho Suk. (2018) Kinase-Based Taming of Brain Microglia Toward Disease-Modifying Therapy. Frontiers in Cellular Neuroscience 12.
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Robert Weil, Emmanuel Laplantine, Shannel Curic & Pierre Génin. (2018) Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and Cancer. Frontiers in Immunology 9.
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Reka P. Toth & Julie D. Atkin. (2018) Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma. Frontiers in Immunology 9.
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Thomas A. Ryan & David A. Tumbarello. (2018) Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy. Frontiers in Immunology 9.
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Bing Shan, Heling Pan, Ayaz Najafov & Junying Yuan. (2018) Necroptosis in development and diseases. Genes & Development 32:5-6, pages 327-340.
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Andrea Markovinovic, Raffaello Cimbro, Tereza Ljutic, Jasna Kriz, Boris Rogelj & Ivana Munitic. (2017) Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms. Progress in Neurobiology 154, pages 1-20.
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Shuo Zhang, Mi-bo Tang, Hai-yang Luo, Chang-he Shi & Yu-ming Xu. (2017) Necroptosis in neurodegenerative diseases: a potential therapeutic target. Cell Death & Disease 8:6, pages e2905-e2905.
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Yuriko Minegishi, Mao Nakayama, Daisuke Iejima, Kazuhide Kawase & Takeshi Iwata. (2016) Significance of optineurin mutations in glaucoma and other diseases. Progress in Retinal and Eye Research 55, pages 149-181.
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Yasushi ItoDimitry OfengeimAyaz NajafovSudeshna DasShahram SaberiYing LiJunichi HitomiHong ZhuHongbo ChenLior MayoJiefei GengPalak AminJudy Park DeWittAdnan Kasim MookhtiarMarcus FlorezAmanda Tomie OuchidaJian-bing FanManolis PasparakisMichelle A. KelliherJohn RavitsJunying Yuan. (2016) RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. Science 353:6299, pages 603-608.
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