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Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

Philtjens, Stéphanie, Van Mossevelde, Sara, van der Zee, Julie, Wauters, Eline, Dillen, Lubina, Vandenbulcke, Mathieu, Vandenberghe, Rik, Ivanoiu, Adrian, Sieben, Anne, Willems, Christiana, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Borroni, Barbara, Padovani, Alessandro, Pastor, Pau, Diez-Fairen, Monica, Aguilar, Miquel, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, Hernández, Isabel, Boada, Merce, Ruiz, Agustín, Nacmias, Benedetta, Sorbi, Sandro, Almeida, Maria Rosário, Santana, Isabel, Clarimón, Jordi, Lleó, Alberto, Frisoni, Giovanni B., Sanchez-Valle, Raquel, Lladó, Albert, Gómez-Tortosa, Estrella, Gelpi, Ellen, Van den Broeck, Marleen, Peeters, Karin, Cras, Patrick, De Deyn, Peter P., Engelborghs, Sebastiaan, Cruts, Marc, Van Broeckhoven, Christine·2018·Neurobiology of Aging
DOI 10.1016/j.neurobiolaging.2018.02.011
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Research works printed but not linked: 38

  1. Alexander, 2014, Validation of the new consensus criteria for the diagnosis of corticobasal degeneration, J. Neurol. Neurosurg. Psychiatry, 85, 925, 10.1136/jnnp-2013-307035 · DOI
  2. Carrasquillo, 2010, Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma, Am. J. Hum. Genet., 87, 890, 10.1016/j.ajhg.2010.11.002 · DOI · Paper page
  3. Cruts, 2006, Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21, Nature, 442, 920, 10.1038/nature05017 · DOI · Paper page
  4. Cruts, 2012, Locus-specific mutation databases for neurodegenerative brain diseases, Hum. Mutat., 33, 1340, 10.1002/humu.22117 · DOI
  5. De Muynck, 2013, The neurotrophic properties of progranulin depend on the granulin E domain but do not require sortilin binding, Neurobiol. Aging, 34, 2541, 10.1016/j.neurobiolaging.2013.04.022 · DOI
  6. DeJesus-Hernandez, 2011, Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS, Neuron, 72, 245, 10.1016/j.neuron.2011.09.011 · DOI · Paper page
  7. Dopazo, 2016, 267 Spanish exomes reveal population-specific differences in disease-related genetic variation, Mol. Biol. Evol., 33, 1205, 10.1093/molbev/msw005 · DOI
  8. Finch, 2009, Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members, Brain, 132, 583, 10.1093/brain/awn352 · DOI
  9. Folstein, 1975, "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician, J. Psychiatr. Res., 12, 189, 10.1016/0022-3956(75)90026-6 · DOI · Paper page
  10. Gaastra, 2016, Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis, Amyotroph. Lateral Scler. Front. Degen., 17, 593, 10.1080/21678421.2016.1213852 · DOI
  11. Gass, 2012, Progranulin regulates neuronal outgrowth independent of sortilin, Mol. Neurodegener., 7, 33, 10.1186/1750-1326-7-33 · DOI
  12. Ghidoni, 2008, Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration, Neurology, 71, 1235, 10.1212/01.wnl.0000325058.10218.fc · DOI
  13. Gijselinck, 2012, A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study, Lancet Neurol., 11, 54, 10.1016/S1474-4422(11)70261-7 · DOI
  14. Gijselinck, 2015, Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort, Neurology, 85, 2116, 10.1212/WNL.0000000000002220 · DOI · Paper page
  15. Goldman, 2007, New genes, new dilemmas: FTLD genetics and its implications for families, Am. J. Alzheimer's Dis. Other Dement., 22, 507, 10.1177/1533317507306662 · DOI
  16. Goossens, 2009, Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing, Hum. Mutat., 30, 472, 10.1002/humu.20873 · DOI
  17. Gorno-Tempini, 2011, Classification of primary progressive aphasia and its variants, Neurology, 76, 1006, 10.1212/WNL.0b013e31821103e6 · DOI · Paper page
  18. Hu, 2010, Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin, Neuron, 68, 654, 10.1016/j.neuron.2010.09.034 · DOI · Paper page
  19. Hutton, 1998, Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17, Nature, 393, 702, 10.1038/31508 · DOI · Paper page
  20. Kircher, 2014, A general framework for estimating the relative pathogenicity of human genetic variants, Nat. Genet., 46, 310, 10.1038/ng.2892 · DOI · Paper page
  21. Li, 2010, Fast and accurate long-read alignment with Burrows-Wheeler transform, Bioinformatics, 26, 589, 10.1093/bioinformatics/btp698 · DOI · Paper page
  22. Litvan, 1996, Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop, Neurology, 47, 1, 10.1212/WNL.47.1.1 · DOI · Paper page
  23. McKenna, 2010, The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res., 20, 1297, 10.1101/gr.107524.110 · DOI · Paper page
  24. Nasreddine, 2005, The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment, J. Am. Geriatr. Soc., 53, 695, 10.1111/j.1532-5415.2005.53221.x · DOI · Paper page
  25. Neary, 1998, Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria, Neurology, 51, 1546, 10.1212/WNL.51.6.1546 · DOI · Paper page
  26. Petkau, 2010, Progranulin expression in the developing and adult murine brain, J. Comp. Neurol., 518, 3931, 10.1002/cne.22430 · DOI · Paper page
  27. Quistgaard, 2009, Ligands bind to Sortilin in the tunnel of a ten-bladed beta-propeller domain, Nat. Struct. Mol. Biol., 16, 96, 10.1038/nsmb.1543 · DOI
  28. Rascovsky, 2011, Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia, Brain, 134, 2456, 10.1093/brain/awr179 · DOI · Paper page
  29. Renton, 2011, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD, Neuron, 72, 257, 10.1016/j.neuron.2011.09.010 · DOI · Paper page
  30. Reumers, 2012, Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing, Nat. Biotechnol., 30, 61, 10.1038/nbt.2053 · DOI
  31. Rubino, 2012, SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis, Neurology, 79, 1556, 10.1212/WNL.0b013e31826e25df · DOI · Paper page
  32. Schofield, 2010, Low serum progranulin predicts the presence of mutations: a prospective study, J. Alzheimer's Dis., 22, 981, 10.3233/JAD-2010-101032 · DOI
  33. Sleegers, 2009, Serum biomarker for progranulin-associated frontotemporal lobar degeneration, Ann. Neurol., 65, 603, 10.1002/ana.21621 · DOI
  34. van der Zee, 2013, A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats, Hum. Mutat., 34, 363, 10.1002/humu.22244 · DOI
  35. van der Zee, 2017, TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis, Hum. Mutat., 38, 297, 10.1002/humu.23161 · DOI
  36. van der Zee, 2014, Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration, Acta Neuropathol., 128, 397, 10.1007/s00401-014-1298-7 · DOI
  37. Weckx, 2005, novoSNP, a novel computational tool for sequence variation discovery, Genome Res., 15, 436, 10.1101/gr.2754005 · DOI
  38. Zheng, 2011, C-terminus of progranulin interacts with the beta-propeller region of sortilin to regulate progranulin trafficking, PLoS One, 6, e21023, 10.1371/journal.pone.0021023 · DOI

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Metadata

Authors
Philtjens, S., Van Mossevelde, S., van der Zee, J., Wauters, E., Dillen, L., Vandenbulcke, M., Vandenberghe, R., Ivanoiu, A., Sieben, A., Willems, C., Benussi, L., Ghidoni, R., Binetti, G., Borroni, B., Padovani, A., Pastor, P., Diez-Fairen, M., Aguilar, M., de Mendonça, A., Miltenberger-Miltényi, G., Hernández, I., Boada, M., Ruiz, A., Nacmias, B., Sorbi, S., Almeida, M. R., Santana, I., Clarimón, J., Lleó, A., Frisoni, G. B., Sanchez-Valle, R., Lladó, A., Gómez-Tortosa, E., Gelpi, E., Van den Broeck, M., Peeters, K., Cras, P., De Deyn, P. P., Engelborghs, S., Cruts, M., & Van Broeckhoven, C.
ORCID
Venue
Neurobiology of Aging
Publisher
Elsevier BV
Published
2018-06
Volume
66
Pages
181.e3-181.e10
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2018.02.011
Cited by
25
References
5
Language
en
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