Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
Abstract
Mutations in UBQLN2 encoding ubiquilin-2 have recently been identified in families with dominant X-linked juvenile and adult-onset amyotrophic lateral sclerosis (ALS) and ALS/dementia. Ubiquilin-2 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. All the previously reported UBQLN2 mutations were localized in 1 of the 12 PXX domains of ubiquilin-2 protein. We sequenced UBQLN2 in 130 French patients with familial ALS (FALS) and absence of male-to-male transmission and the PXX domain in 240 more patients with sporadic ALS (SALS). We identified, at the heterozygote state, the c.1500_1508delCATAGGCCC, p.Gly502_Ile504del, in 1 affected woman. This deletion presumably leads to the in-frame deletion of 1 PXX repeat in the protein. This variant did not segregate with the disease in the corresponding family and was also detected in 1/380 control subject. Our results suggest that UBQLN2 gene mutations are rare in French ALS.
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Rare UBQLN2 mutations are associated with familial forms of ALS and ALS-FTD.
“Rare UBQLN2 mutations are associated with familial forms of ALS and ALS-FTD [221–223]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [222]
Cites
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409 · see citing works
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., et al. (2011) · Nature · doi:10.1038/nature10353 · Cited by 1,174 · see citing works
Millecamps, S., Salachas, F., Cazeneuve, C., Gordon, P., Bricka, B., Camuzat, A., Guillot‐Noël, L., Russaouen, O., Bruneteau, G., Pradat, P., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2010.077180 · Cited by 308 · see citing works
Self-citationScreening of OPTN in French familial amyotrophic lateral sclerosis
Millecamps, S., Boillée, S., Chabrol, E., Camu, W., Cazeneuve, C., Salachas, F., Pradat, P., Danel-Brunaud, V., Vandenberghe, N., Corcia, P., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.11.005 · Cited by 84 · see citing works
Self-citationQuestioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis
Millecamps, S., da Barroca, S., Cazeneuve, C., Salachas, F., Pradat, P., Danel-Brunaud, V., Vandenberghe, N., Lacomblez, L., Forestier, N. L., Bruneteau, G., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1006190107 · Cited by 21 · see citing works
Self-citationA role for ubiquilin 2 mutations in neurodegeneration
Daoud, H., & Rouleau, G. A. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.163 · Cited by 19 · see citing works
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Suk, T. R., & Rousseaux, M. W. C. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00397-1 · Cited by 456 · see citing works
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
Teyssou, E., Takeda, T., Lebon, V., Boillée, S., Doukouré, B., Bataillon, G., Sazdovitch, V., Cazeneuve, C., Meininger, V., LeGuern, E., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1090-0 · Cited by 241 · see citing works
Self-citationAutophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189 · see citing works
Misregulated RNA processing in amyotrophic lateral sclerosis
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Bennett, C. F., Cleveland, D. W., & Yeo, G. W. (2012) · Brain Research · doi:10.1016/j.brainres.2012.02.059 · Cited by 169 · see citing works
Millecamps, S., Boillée, S., Ber, I. L., Seilhean, D., Teyssou, E., Giraudeau, M., Moigneu, C., Vandenberghe, N., Danel-Brunaud, V., Corcia, P., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100699 · Cited by 179 · see citing works
Self-citationUBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
Williams, K. L., Warraich, S. T., Yang, S., Fifita, J. A., Fernando, R., Rouleau, G. A., Nicholson, G. A., & Blair, I. P. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.05.008 · Cited by 166 · see citing works
From animal models to human disease: a genetic approach for personalized medicine in ALS
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Lattante, S., Ciura, S., Rouleau, G. A., & Kabashi, E. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.005 · Cited by 125 · see citing works
Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia
Renaud, L., Picher‐Martel, V., Codron, P., & Julien, J. (2019) · Acta Neuropathologica Communications · doi:10.1186/s40478-019-0758-7 · Cited by 123 · see citing works
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Nguyen, D. K. H., Thombre, R., & Wang, J. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.04.006 · Cited by 110 · see citing works
Synofzik, M., Maetzler, W., Grehl, T., Prudlo, J., Hagen, J. M. V., Haack, T. B., Rebassoo, P., Munz, M., Schöls, L. J., & Biskup, S. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.07.002 · Cited by 105 · see citing works
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Özoğuz, A., Uyan, Ö., Birdal, G., Tunca, C., Kartal, E., Lahut, S., Ömür, Ö., Ağım, Z. S., Eken, A. G., Şen, N.-E., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.12.032 · Cited by 104 · see citing works
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Gellera, C., Tiloca, C., Bo, R. D., Corrado, L., Pensato, V., Agostini, J., Cereda, C., Ratti, A., Castellotti, B., Corti, S. P., et al. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-303433 · Cited by 87 · see citing works
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Self-citationGenetics of amyotrophic lateral sclerosis
Corcia, P., Couratier, P., Blasco, H., Andres, C. R., Beltran, S., Meininger, V., & Vourc’h, P. (2017) · Revue Neurologique · doi:10.1016/j.neurol.2017.03.030 · Cited by 68 · see citing works
Self-citationTeyssou, E., Chartier, L., Amador, M. D. M., Lam, R., Lautrette, G., Nicol, M., Machat, S., da Barroca, S., Moigneu, C., Mairey, M., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.06.018 · Cited by 67 · see citing works
Self-citationUBQLN2 mutation causing heterogeneous X‐linked dominant neurodegeneration
Fahed, A. C., McDonough, B. A., Gouvion, C. M., Newell, K. L., Dure, L. S., Bebin, M., Bick, A. G., Seidman, J. G., Harter, D. H., & Seidman, C. E. (2014) · Annals of Neurology · doi:10.1002/ana.24164 · Cited by 60 · see citing works
Recent Advances in the Genetics of the ALS-FTLD Complex
Morris, H. R., Waite, A. J., Williams, N. M., Neal, J., & Blake, D. J. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0268-5 · Cited by 57 · see citing works
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Daoud, H., Suhail, H., Szuto, A., Camu, W., Salachas, F., Meininger, V., Bouchard, J.-P., Dupré, N., Dion, P. A., & Rouleau, G. A. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.03.015 · Cited by 42 · see citing works
Self-citationDillen, L., Langenhove, T. V., Engelborghs, S., Vandenbulcke, M., Sarafov, S., Tournev, I., Merlin, C., Cras, P. P., Vandenberghe, R. R., Deyn, P. P. D., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.12.007 · Cited by 41 · see citing works
Harms, M. B., & Baloh, R. H. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.05.003 · Cited by 40 · see citing works
Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis
Teyssou, E., Vandenberghe, N., Moigneu, C., Boillée, S., Couratier, P., Meininger, V., Pradat, P., Salachas, F., Leguern, É., & Millecamps, S. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.11.023 · Cited by 33 · see citing works
Self-citationSreedharan, J., Blakeney, I., & Brown, R. H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00020-5 · Cited by 32 · see citing works
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Kim, H., Kwon, M., Choi, W.-J., Oh, K., Oh, S., Ki, C., & Kim, S. H. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.03.001 · Cited by 28 · see citing works
Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS
González-Pérez, P., Lu, Y., Chian, R.-J., Sapp, P. C., Tanzi, R. E., Bertram, L., McKenna-Yasek, D. M., Gao, F., & Brown, R. H. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.06.018 · Cited by 27 · see citing works
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McLaughlin, R. L., Kenna, K. P., Vajda, A., Byrne, S., Bradley, D. G., & Hardiman, O. M. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.07.023 · Cited by 14 · see citing works
Thumbadoo, K. M., Dieriks, B. V., Murray, H. C., Swanson, M. E. V., Yoo, J. H., Mehrabi, N. F., Turner, C. P., Dragunow, M., Faull, R. L. M., Curtis, M. A., et al. (2024) · Brain · doi:10.1093/brain/awae140 · Cited by 13 · see citing works
Huang, X., Shen, S., & Fan, D. (2017) · PLoS ONE · doi:10.1371/journal.pone.0170943 · Cited by 10 · see citing works
Génétique de la sclérose latérale amyotrophique
Corcia, P., Blasco, H., & Camu, W. (2014) · La Presse Médicale · doi:10.1016/j.lpm.2014.01.012 · Cited by 9 · see citing works
Self-citationPhenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey
Kotan, D., Ayas, Z. Ö., Tunca, C., Güngen, B. D., Akçimen, F., & Başak, A. N. (2020) · Acta Neurologica Belgica · doi:10.1007/s13760-020-01441-z · Cited by 5 · see citing works
Ayromlou, H., Pourvahed, P., Jahanjoo, F., Dolatkhah, H., Shakouri, S. K., & Dolatkhah, N. (2018) · Iranian Red Crescent Medical Journal · doi:10.5812/ircmj.64847 · Cited by 5 · see citing works
Hernández, I., Espinosa, A., Real, L. M., Galán, J. J., Mauleón, A., Rosende‐Roca, M., Tárraga, L., Ruiz, A., & Boada, M. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6568-5 · Cited by 2 · see citing works
Lin, Z., Ibrahim, A. N., Brown, R. H., & Sreedharan, J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00034-0 · Cited by 2 · see citing works
Thumbadoo, K. M., Dieriks, B. V., Murray, H. C., Swanson, M. E. V., Yoo, J. H., Mehrabi, N. F., Turner, C. P., Dragunow, M., Faull, R. L. M., Curtis, M. A., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.12.475792 · Cited by 2 · see citing works
McLaughlin, R. L., Kenna, K. P., & Hardiman, O. M. (2015) · Springer eBooks · doi:10.1007/978-3-319-17223-1_17 · Cited by 1 · see citing works
Complexity of familial amyotrophic lateral sclerosis
van Blitterswijk, M. (2012) · Utrecht University Repository (Utrecht University)
Modelling C9orf72-linked frontotemporal dementia and amyotrophic lateral sclerosis
Ryan, S. (2015) · Research Explorer (The University of Manchester)
Sreedharan, J., & Brown, R. H. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00087-5
- Authors
- Millecamps, S., Corcia, P., Cazeneuve, C., Boillée, S., Seilhean, D., Danel-Brunaud, V., Vandenberghe, N., Pradat, P.-F., Le Forestier, N., Lacomblez, L., Bruneteau, G., Camu, W., Brice, A., Meininger, V., LeGuern, E., & Salachas, F.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Université de Tours (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Hospices Civils de Lyon (FR)
- Pitié-Salpêtrière Hospital (FR)
- Hôpital Gui de Chauliac (FR)
- Corresponding author
- Millecamps, Stéphanie
- ORCID
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2012-04
- Volume
- 33
- Issue
- 4
- Pages
- 839.e1-839.e3
- ISSN
- 0197-4580 (ISSN-L)
- OpenAlex
- W2006279007
- Cited by
- 40
- References
- 7
- Citations by year
- 2024: 2 · 2022: 1 · 2021: 1 · 2020: 3 · 2019: 1 · 2018: 2 · 2017: 4 · 2016: 2 · 2015: 4 · 2014: 5 · 2013: 5 · 2012: 10
- FWCI
- 4.06
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Association pour la Recherche sur la Sclérose Latérale Amyotrophique et autres Maladies du Motoneurone
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- UBQLN2, amyotrophic lateral sclerosis, familial ALS, sporadic ALS, in-frame deletion, French patients, mutation frequency
- MeSH terms
- Autophagy-Related Proteins, Adolescent, Adult, Aged, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Exons, Family Health, Female, France, Humans, Male, Middle Aged, Mutation, Ubiquitins, Cell Cycle Proteins, Adaptor Proteins, Signal Transducing, Young Adult
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