Citations (33)
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Lisa Mendelson, Tatiana Prokaeva, K. H. Vincent Lau, Vaishali Sanchorawala, Kristen McCausland, Brian Spencer, Surendra Dasari, Ellen D. McPhail & Michelle C. Kaku. (2023) Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions. Amyloid 30:4, pages 357-363.
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Juliane Gottwald & Christoph Röcken. (2021) The amyloid proteome: a systematic review and proposal of a protein classification system. Critical Reviews in Biochemistry and Molecular Biology 56:5, pages 526-542.
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Susanna Koskelainen, Fang Zhao, Hannu Kalimo, Marc Baumann & Sari Kiuru-Enari. (2020) Severe elastolysis in hereditary gelsolin (AGel) amyloidosis. Amyloid 27:2, pages 81-88.
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Francesco Bonì, Mario Milani, Eloise Mastrangelo, Alberto Babiroli, Luisa Diomede & Matteo de Rosa. (2019) An alternative non-proteolytic mechanism may underlie AGel amyloidosis. Amyloid 26:sup1, pages 150-151.
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Tuuli Nikoskinen, Eeva-Kaisa Schmidt, Daniel Strbian, Sari Kiuru-Enari & Sari Atula. (2015) Natural course of Finnish gelsolin amyloidosis. Annals of Medicine 47:6, pages 506-511.
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Dorota Rowczenio, Glenys A. Tennent, Janet Gilbertson, Helen J. Lachmann, David F. Hutt, Alison Bybee, Philip N. Hawkins & Julian D. Gillmore. (2014) Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis. Amyloid 21:4, pages 276-281.
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Articles from other publishers (27)
Laura E. Biederman, Alana D. Dasgupta, Darren E. Dreyfus, Tibor Nadasdy, Anjali A. Satoskar & Sergey V. Brodsky. (2023) Kidney Biopsy Corner: Amyloidosis. Glomerular Diseases, pages 165-177.
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Yaling Jiang, Meidan Wan, XueWen Xiao, Zhuojie Lin, Xixi Liu, Yafang Zhou, Xinxin Liao, Jingyi Lin, Hui Zhou, Lu Zhou, Ling Weng, Junling Wang, Jifeng Guo, Hong Jiang, Zhuohua Zhang, Kun Xia, Jiada Li, Beisha Tang, Bin Jiao & Lu Shen. (2023)
GSN
gene frameshift mutations in Alzheimer’s disease
. Journal of Neurology, Neurosurgery & Psychiatry 94:6, pages 436-447.
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Michela Bollati, Kaliroi Peqini, Luigi Barone, Carmina Natale, Marten Beeg, Marco Gobbi, Luisa Diomede, Michelangelo Trucchi, Matteo de Rosa & Sara Pellegrino. (2022) Rational Design of a Peptidomimetic Inhibitor of Gelsolin Amyloid Aggregation. International Journal of Molecular Sciences 23:22, pages 13973.
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Inês Antunes Cunha, Ana Brás, Fátima Silva & Anabela Matos. (2022) Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases. BMJ Case Reports 15:11, pages e245764.
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Rong Zhang, Fangfang Shang, Danyang Li, Yuan Zhang & Li Yuan. (2021) The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture. Journal of Nephrology 34:4, pages 1257-1259.
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Sean Mullany, Emmanuelle Souzeau, Sonja Klebe, Tiger Zhou, Lachlan S. W. Knight, Ayub Qassim, Ella C. Berry, Henry Marshall, Matthew Hussey, Andrew Dubowsky, James Breen, Mark M. Hassall, Richard A. Mills, Jamie E. Craig & Owen M. Siggs. (2021)
A novel
GSN
variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type
. Human Mutation 42:7, pages 818-826.
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Angelo Maria Minnella, Roberta Rissotto, Elena Antoniazzi, Marco Di Girolamo, Marco Luigetti, Martina Maceroni, Daniela Bacherini, Benedetto Falsini, Stanislao Rizzo & Laura Obici. (2021) Ocular Involvement in Hereditary Amyloidosis. Genes 12:7, pages 955.
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Mohanad Ahmad, Josephine Esposto, Camilla Golec, Colin Wu & Sanela Martic-Milne. (2021) Aggregation of gelsolin wild-type and G167K/R, N184K, and D187N/Y mutant peptides and inhibition. Molecular and Cellular Biochemistry 476:6, pages 2393-2408.
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Jan Gettemans & Brian De Dobbelaer. (2021) Transforming nanobodies into high-precision tools for protein function analysis. American Journal of Physiology-Cell Physiology 320:2, pages C195-C215.
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Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina & Ana Fakin. (2021) Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys. International Journal of Molecular Sciences 22:3, pages 1084.
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E-Nae Cheong, Wooyul Paik, Young-Chul Choi, Young-Min Lim, Hyunjin Kim, Woo Hyun Shim & Hyung Jun Park. (2021) Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis. Yonsei Medical Journal 62:5, pages 431.
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Michela Bollati, Luisa Diomede, Toni Giorgino, Carmina Natale, Elisa Fagnani, Irene Boniardi, Alberto Barbiroli, Rebecca Alemani, Marten Beeg, Marco Gobbi, Ana Fakin, Eloise Mastrangelo, Mario Milani, Gianluca Presciuttini, Edi Gabellieri, Patrizia Cioni & Matteo de Rosa. (2021) A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation. Computational and Structural Biotechnology Journal 19, pages 6355-6365.
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Eeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, Tero T. Kivelä & Sari Atula. (2020) Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study. Orphanet Journal of Rare Diseases 15:1.
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Yaling Jiang, Bin Jiao, Xinxin Liao, Xuewen Xiao, Xixi Liu & Lu Shen. (2020) Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer’s Disease. Frontiers in Aging Neuroscience 12.
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Magali Colombat, Jean-Claude Aldigier, Pierre-Raphael Rothschild, Vincent Javaugue, Estelle Desport, Thierry Frouget, Jean-Michel Goujon, Nathalie Rioux-Leclercq, Nathalie Quellard, Jean Philippe Rerolle, François Paraf, Caroline Beugnet, Aurélien Tiple, Antoine Durrbach, Didier Samuel, Antoine Brézin, Frank Bridoux & Sophie Valleix. (2020) New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis. Kidney International 98:1, pages 195-208.
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Matteo de Rosa, Alberto Barbiroli, Francesco Bonì, Emanuele Scalone, Davide Mattioni, Maria A. Vanoni, Marco Patrone, Michela Bollati, Eloise Mastrangelo, Toni Giorgino & Mario Milani. (2019) The structure of N184K amyloidogenic variant of gelsolin highlights the role of the H-bond network for protein stability and aggregation properties. European Biophysics Journal 49:1, pages 11-19.
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Michela Bollati, Emanuele Scalone, Francesco Bonì, Eloise Mastrangelo, Toni Giorgino, Mario Milani & Matteo de Rosa. (2019) High-resolution crystal structure of gelsolin domain 2 in complex with the physiological calcium ion. Biochemical and Biophysical Research Communications 518:1, pages 94-99.
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Habiba ZorgatiMårten LarssonWeitong Ren, Adelene Y. L. SimJan GettemansJonathan M. GrimesWenfei Li & Robert C. Robinson. (2019) The role of gelsolin domain 3 in familial amyloidosis (Finnish type). Proceedings of the National Academy of Sciences 116:28, pages 13958-13963.
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Toni Giorgino, Davide Mattioni, Amal Hassan, Mario Milani, Eloise Mastrangelo, Alberto Barbiroli, Adriaan Verhelle, Jan Gettemans, Maria Monica Barzago, Luisa Diomede & Matteo de Rosa. (2019) Nanobody interaction unveils structure, dynamics and proteotoxicity of the Finnish-type amyloidogenic gelsolin variant. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1865:3, pages 648-660.
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Ankit Srivastava, Jasdeep Singh, Shiv Pratap Singh Yadav, Prabha Arya, Fouzia Kalim, Pooja Rose, Ashish & Bishwajit Kundu. (2018) The Gelsolin Pathogenic D187N Mutant Exhibits Altered Conformational Stability and Forms Amyloidogenic Oligomers. Biochemistry 57:16, pages 2359-2372.
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Francesco Bonì, Mario Milani, Alberto Barbiroli, Luisa Diomede, Eloise Mastrangelo & Matteo de Rosa. (2018) Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein. Human Molecular Genetics 27:1, pages 53-65.
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Tuuli Mustonen, Eeva-Kaisa Schmidt, Miko Valori, Pentti J Tienari, Sari Atula & Sari Kiuru-Enari. (2017) Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families. European Journal of Human Genetics 26:1, pages 117-123.
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Dorota Rowczenio, Maria Stensland, Gustavo A. de Souza, Erik H. Strøm, Janet A. Gilbertson, Graham Taylor, Nigel Rendell, Shane Minogue, Yvonne A. Efebera, Helen J. Lachmann, Ashutosh D. Wechalekar, Philip N. Hawkins, Ketil R. Heimdal, Kristian Selvig, Inger K. Lægreid, Nathalie Demoulin, Selda Aydin, Julian D. Gillmore & Tale N. Wien. (2017) Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein. Kidney International Reports 2:3, pages 461-469.
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Sanjeev Sethi, Surendra Dasari, Md. Shahrier Amin, Julie A. Vrana, Jason D. Theis, Mariam P. Alexander & Paul J. Kurtin. (2017) Clinical, biopsy, and mass spectrometry findings of renal gelsolin amyloidosis. Kidney International 91:4, pages 964-971.
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Anna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, Laura Fadda, Lisa Melzi, Antonio Morico, Claudia Ciano, Franco Taroni, Dante Facchetti, Ettore Salsano & Davide Pareyson. (2017) Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy. Journal of the Peripheral Nervous System 22:1, pages 59-63.
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Francesco Bonì, Mario Milani, Riccardo Porcari, Alberto Barbiroli, Stefano Ricagno & Matteo de Rosa. (2016) Molecular basis of a novel renal amyloidosis due to N184K gelsolin variant. Scientific Reports 6:1.
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Kyoung-Jin Park, Jong-Ho Park, June-Hee Park, Eun Bin Cho, Byoung Joon Kim & Jong-Won Kim. (2016) The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene. Annals of Laboratory Medicine 36:3, pages 259-262.
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