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Research Article

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

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Pages 615-619 | Received 07 Jun 2013, Accepted 07 Jul 2013, Published online: 14 Aug 2013

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Eva M. J. de Boer, Koen C. Demaegd, Charlotte I. de Bie, Jan H. Veldink, Leonard H. van den Berg & Michael A. van Es. (2023) Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 0:0, pages 1-8.
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Articles from other publishers (23)

Brian C. Lin, Nicole R. Higgins, Trong H. Phung & Mervyn J. Monteiro. (2021) UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD. The FEBS Journal 289:20, pages 6132-6153.
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Hao Li, Yong Sun & Rong Chen. (2021) Constructing and validating a diagnostic nomogram for multiple sclerosis via bioinformatic analysis. 3 Biotech 11:3.
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Suvi Häkkinen, Stephanie A. Chu & Suzee E. Lee. (2020) Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiology of Disease 145, pages 105063.
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Tongyin ZhengYiran YangCarlos A. Castañeda. (2020) Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery. Biochemical Journal 477:18, pages 3471-3497.
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Mirko Baglivo, Elena Manara, Natale Capodicasa, Paolo Enrico Maltese, Liborio Stuppia, Sandro Michelini, Rita Compagna, Bruno Amato & Matteo Bertelli. (2020) Early-onset of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis in an Albanian Patient with a c.1319C>T Variant in the UBQLN2 Gene. Open Medicine Journal 7:1, pages 25-31.
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Laurence Renaud, Vincent Picher-Martel, Philippe Codron & Jean-Pierre Julien. (2019) Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. Acta Neuropathologica Communications 7:1.
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Thuy P. Dao, Brian Martyniak, Ashley J. Canning, Yongna Lei, Erica G. Colicino, Michael S. Cosgrove, Heidi Hehnly & Carlos A. Castañeda. (2019) ALS-Linked Mutations Affect UBQLN2 Oligomerization and Phase Separation in a Position- and Amino Acid-Dependent Manner. Structure 27:6, pages 937-951.e5.
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Soragia Athina Gkazi, Claire Troakes, Simon Topp, Jack W. Miller, Caroline A. Vance, Jemeen Sreedharan, Ammar Al-Chalabi, Janine Kirby, Pamela J. Shaw, Safa Al-Sarraj, Andrew King, Bradley N. Smith & Christopher E. Shaw. (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging 73, pages 229.e5-229.e9.
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Abhishek Vats, Mandaville Gourie-Devi, Kavita Ahuja, Ankkita Sharma, Saima Wajid, Nirmal Kumar Ganguly & Vibha Taneja. (2018) Expression analysis of protein homeostasis pathways in the peripheral blood mononuclear cells of sporadic amyotrophic lateral sclerosis patients. Journal of the Neurological Sciences 387, pages 85-91.
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Jessica Deleon & Bruce L. Miller. 2018. Neurogenetics, Part II. Neurogenetics, Part II 409 430 .
Babykumari P Chitramuthu, Hugh P J Bennett & Andrew Bateman. (2017) Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease. Brain 140:12, pages 3081-3104.
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Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra Da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stevanin & Stéphanie Millecamps. (2017) Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. Neurobiology of Aging 58, pages 239.e11-239.e20.
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Fernando Bartolome, Noemi Esteras, Angeles Martin-Requero, Claire Boutoleau-Bretonniere, Martine Vercelletto, Audrey Gabelle, Isabelle Le Ber, Tadashi Honda, Albena T. Dinkova-Kostova, John Hardy, Eva Carro & Andrey Y. Abramov. (2017) Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Scientific Reports 7:1.
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C. Tard, L. Defebvre, C. Moreau, D. Devos & V. Danel-Brunaud. (2017) Clinical features of amyotrophic lateral sclerosis and their prognostic value. Revue Neurologique 173:5, pages 263-272.
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Vincent Picher-Martel, Paul N. Valdmanis, Peter V. Gould, Jean-Pierre Julien & Nicolas Dupré. (2016) From animal models to human disease: a genetic approach for personalized medicine in ALS. Acta Neuropathologica Communications 4:1.
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E. Preza, J. Hardy, T. Warner & S. Wray. (2016) Review: Induced pluripotent stem cell models of frontotemporal dementia. Neuropathology and Applied Neurobiology 42:6, pages 497-520.
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Vijay Kumar, Asimul Islam, Md. Imtaiyaz Hassan & Faizan Ahmad. (2016) Delineating the relationship between amyotrophic lateral sclerosis and frontotemporal dementia: Sequence and structure-based predictions. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1862:9, pages 1742-1754.
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Roland Hjerpe, John S. Bett, Matthew J. Keuss, Alexandra Solovyova, Thomas G. McWilliams, Clare Johnson, Indrajit Sahu, Joby Varghese, Nicola Wood, Melanie Wightman, Georgina Osborne, Gillian P. Bates, Michael H. Glickman, Matthias Trost, Axel Knebel, Francesco Marchesi & Thimo Kurz. (2016) UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome. Cell 166:4, pages 935-949.
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Aslıhan Özoğuz, Özgün Uyan, Güneş Birdal, Ceren Iskender, Ece Kartal, Suna Lahut, Özgür Ömür, Zeynep Sena Agim, Aslı Gündoğdu Eken, Nesli Ece Sen, Pınar Kavak, Ceren Saygı, Peter C. Sapp, Pamela Keagle, Yeşim Parman, Ersin Tan, Filiz Koç, Feza Deymeer, Piraye Oflazer, Haşmet Hanağası, Hakan Gürvit, Başar Bilgiç, Hacer Durmuş, Mustafa Ertaş, Dilcan Kotan, Mehmet Ali Akalın, Halil Güllüoğlu, Mehmet Zarifoğlu, Fikret Aysal, Nilgün Döşoğlu, Kaya Bilguvar, Murat Günel, Özlem Keskin, Tahsin Akgün, Hilmi Özçelik, John E. Landers, Robert H. Brown & A. Nazlı Başak. (2015) The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology of Aging 36:4, pages 1764.e9-1764.e18.
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Carolina Alquezar, Noemí Esteras, Ana de la Encarnación, Fermín Moreno, Adolfo López de Munain & Ángeles Martín-Requero. (2015) Increasing progranulin levels and blockade of the ERK1/2 pathway: Upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia. European Neuropsychopharmacology 25:3, pages 386-403.
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Jill S. Goldman. 2015. Genetic Counseling for Adult Neurogenetic Disease. Genetic Counseling for Adult Neurogenetic Disease 109 119 .
John Hardy & Ekaterina Rogaeva. (2014) Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Experimental Neurology 262, pages 75-83.
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Josef Finsterer & Jean-Marc Burgunder. (2014) Recent progress in the genetics of motor neuron disease. European Journal of Medical Genetics 57:2-3, pages 103-112.
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