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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Abstract
Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions (both cytoplasmic and nuclear) of unknown nature has been linked to a chromosome 17q21 region (FTDU-17) containing MAPT (microtubule-associated protein tau). FTDU-17 patients have consistently been shown to lack a tau-immunoreactive pathology, a feature characteristic of FTD with parkinsonism linked to mutations in MAPT (FTDP-17). Furthermore, in FTDU-17 patients, mutations in MAPT and genomic rearrangements in the MAPT region have been excluded by both genomic sequencing and fluorescence in situ hybridization on mechanically stretched chromosomes. Here we demonstrate that FTDU-17 is caused by mutations in the gene coding for progranulin (PGRN), a growth factor involved in multiple physiological and pathological processes including tumorigenesis. Besides the production of truncated PGRN proteins due to premature stop codons, we identified a mutation within the splice donor site of intron 0 (IVS0 + 5G > C), indicating loss of the mutant transcript by nuclear degradation. The finding was made within an extensively documented Belgian FTDU-17 founder family. Transcript and protein analyses confirmed the absence of the mutant allele and a reduction in the expression of PGRN. We also identified a mutation (c.3G > A) in the Met1 translation initiation codon, indicating loss of PGRN due to lack of translation of the mutant allele. Our data provide evidence that PGRN haploinsufficiency leads to neurodegeneration because of reduced PGRN-mediated neuronal survival. Furthermore, in a Belgian series of familial FTD patients, PGRN mutations were 3.5 times more frequent than mutations in MAPT, underscoring a principal involvement of PGRN in FTD pathogenesis.
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“Upon signaling from neurons, PLP is exocytosed to the plasma membrane to form the myelin sheath.37”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [37]
In the citing paper
“A proteomic relationship between AD and FTD is supported by the fact that mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) protein cause microglial dysfunction and lead to AD39,40, whereas mutations in the progranulin (PGRN) protein also cause microglial dysfunction and lead to FTD41–43.”
In the citing paper
“We performed power calculations to forecast the number of additional PD cases needed to achieve genome-wide significance at 80% power for a variant with a minor allele frequency of 21.3% and an effect estimate of 0.047 (32). Assuming that future data is well-harmonized with current data and that disease prevalence is 0.5%, we estimated that we would need a total of ~99K cases, ~2.3 times more than”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [32]
Citations
Cites
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Kertesz, A., Robert, P. H., Albert, M., et al. (1998) · Neurology · doi:10.1212/wnl.51.6.1546 · Cited by 5,047
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058
Self-citationClinical and Pathological Diagnosis of Frontotemporal Dementia
McKhann, G. M. (2001) · Archives of Neurology · doi:10.1001/archneur.58.11.1803 · Cited by 1,478
Watts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391
Oosthuyse, B., Moons, L., Storkebaum, E., Beck, H., Nuyens, D., Brusselmans, K., Dorpe, J. V., Hellings, P., Gorselink, M., Heymans, S., et al. (2001) · Nature Genetics · doi:10.1038/88842 · Cited by 1,007
Self-citationFrontotemporal dementia: Clinicopathological correlations
Forman, M. S., Farmer, J., Johnson, J. K., Clark, C. M., Arnold, S. E., Coslett, H. B., Chatterjee, A., Hurtig, H. I., Karlawish, J. H., Rosen, H. J., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20873 · Cited by 478
He, Z., & Bateman, A. (2003) · Journal of Molecular Medicine · doi:10.1007/s00109-003-0474-3 · Cited by 477
Cellular Localization of Gene Expression for Progranulin
DANIEL, R. L., He, Z., Carmichael, K. P., Halper, J. T., & Bateman, A. (2000) · Journal of Histochemistry & Cytochemistry · doi:10.1177/002215540004800713 · Cited by 346
novoSNP, a novel computational tool for sequence variation discoveryPreprint
Weckx, S., Del‐Favero, J., Rademakers, R., Claes, L. R. F., Cruts, M., Jonghe, P. D., Broeckhoven, C. V., & Rijk, P. D. (2005) · Genome Research · doi:10.1101/gr.2754005 · Cited by 288
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Research works printed but not linked: 3
- Gijselinck, I. et al. Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. Hum. Mutat. (in the press)
- Liau, L. M. et al. Identification of a human glioma-associated growth factor gene, granulin, using differential immuno-absorption. Cancer Res. 60, 1353–1360 (2000)
- Rozen, S. & Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132, 365–386 (2000)
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Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
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Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., van Swieten, J. C., Seelaar, H., Dopper, E. G. P., Onyike, C. U., et al. (2011) · Brain · doi:10.1093/brain/awr179 · Cited by 5,221
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
Self-citationArai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732
Nalls, M. A., Blauwendraat, C., Vallerga, C. L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D. A., Noyce, A. J., Xue, A., et al. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30320-5 · Cited by 2,454
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Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058
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Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811
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Nelson, P. T., Dickson, D. W., Trojanowski, J. Q., Jack, C. R., Boyle, P. A., Arfanakis, K., Rademakers, R., Alafuzoff, I., Attems, J., Brayne, C., et al. (2019) · Brain · doi:10.1093/brain/awz099 · Cited by 1,547
Self-citationLong pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S.-C., Sun, E., Wancewicz, E., Mazur, C., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2779 · Cited by 1,335
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Spillantini, M. G., & Goedert, M. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70090-5 · Cited by 1,133
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Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
Johnson, E. C. B., Dammer, E. B., Duong, D. M., Ping, L., Zhou, M., Yin, L., Higginbotham, L. A., Guajardo, A., White, B., Troncoso, J. C., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-0815-6 · Cited by 1,001
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Tang, W., Lu, Y., Tian, Q.-Y., Zhang, Y., Guo, F.-J., Liu, G.-Y., Syed, N. M., Lai, Y., Lin, E. A., Kong, L., et al. (2011) · Science · doi:10.1126/science.1199214 · Cited by 761
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Hodges, J. R., & Patterson, K. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70266-1 · Cited by 772
Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H.-Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.001 · Cited by 729
Self-citationYankner, B. A., Lu, T., & Loerch, P. (2008) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev.pathmechdis.2.010506.092044 · Cited by 677
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Lee, E. B., Lee, V. M.-Y., & Trojanowski, J. Q. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3121 · Cited by 659
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Rohrer, J. D., Guerreiro, R., Vandrovcova, J., Uphill, J., Reiman, D., Beck, J., Isaacs, A. M., Authier, A., Ferrari, R., Fox, N. C., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181bf997a · Cited by 536
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Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60630-3 · Cited by 342
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Moore, K. M., Nicholas, J., Grossman, M., McMillan, C. T., Irwin, D. J., Massimo, L., Van Deerlin, V. M., Warren, J. D., Fox, N. C., Rossor, M. N., et al. (2020) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30394-1 · Cited by 313
Self-citationProgressive Supranuclear Palsy: Pathology and Genetics
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Self-citationPottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1436-x · Cited by 312
Self-citationThe identity and function of microglia in neurodegeneration
Song, W. M., & Colonna, M. (2018) · Nature Immunology · doi:10.1038/s41590-018-0212-1 · Cited by 308
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Logan, T., Simon, M. J., Rana, A., Cherf, G. M., Srivastava, A., Davis, S. S., Low, R. L. Y., Chiu, C.-L., Fang, M., Huang, F., et al. (2021) · Cell · doi:10.1016/j.cell.2021.08.002 · Cited by 233
Moisse, K., Volkening, K., Leystra-Lantz, C., Welch, I., Hill, T., & Strong, M. J. (2009) · Brain Research · doi:10.1016/j.brainres.2008.10.021 · Cited by 210
Geser, F., Lee, V. M.-Y., & Trojanowski, J. Q. (2010) · Neuropathology · doi:10.1111/j.1440-1789.2009.01091.x · Cited by 195
Yu, C.-E., Bird, T. D., Bekris, L. M., Montine, T. J., Leverenz, J. B., Steinbart, E., Galloway, N. M., Feldman, H., Woltjer, R., Miller, C. A., et al. (2010) · Archives of Neurology · doi:10.1001/archneurol.2009.328 · Cited by 190
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Self-citationBer, I. L., Guedj, E., Gabelle, A., Verpillat, P., Volteau, M., Thomas-Anterion, C., Decousus, M., Hannequin, D., Vera, P., Lacomblez, L., et al. (2006) · Brain · doi:10.1093/brain/awl288 · Cited by 179
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Yin, F., Dumont, M., Banerjee, R., Ma, Y., Li, H., Lin, M. T., Beal, M. F., Nathan, C., Thomas, B., & Ding, A. (2010) · The FASEB Journal · doi:10.1096/fj.10-161471 · Cited by 180
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Caccamo, A., Majumder, S., Deng, J. J., Bai, Y., Thornton, F. B., & Oddo, S. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.031278 · Cited by 169
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Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., et al. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(18)30126-1 · Cited by 131
Self-citationChen-Plotkin, A. S., Geser, F., Plotkin, J. B., Clark, C. M., Kwong, L. K., Yuan, W., Grossman, M., Van Deerlin, V. M., Trojanowski, J. Q., & Lee, V. M.-Y. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn023 · Cited by 135
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Leverenz, J. B., Yu, C. E., Montine, T. J., Steinbart, E., Bekris, L. M., Zabetian, C., Kwong, L. K., Lee, V. M.-Y., Schellenberg, G. D., & Bird, T. D. (2007) · Brain · doi:10.1093/brain/awm069 · Cited by 129
Rosen, E. Y., Wexler, E. M., Versano, R., Coppola, G., Gao, F., Winden, K. D., Oldham, M. C., Martens, L. H., Zhou, P., Farese, R. V., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.07.021 · Cited by 128
Feng, T., Lacrampe, A., & Hu, F. (2021) · Acta Neuropathologica · doi:10.1007/s00401-020-02246-3 · Cited by 110
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori, S., Froud, K. E., Mizielinska, S., Powell, C., Smidak, M., Fernandez de Marco, M., O’Malley, C., Farmer, M., Parkinson, N., Fisher, E. M. C., et al. (2012) · Brain · doi:10.1093/brain/aws006 · Cited by 115
Suárez‐Calvet, M., Capell, A., Araque Caballero, M. Á., Morenas‐Rodríguez, E., Fellerer, K., Franzmeier, N., Kleinberger, G., Eren, E., Deming, Y., Piccio, L., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201809712 · Cited by 109
Progranulin is a chemoattractant for microglia and stimulates their endocytic activity
Pickford, F., Marcus, J., Camargo, L. M., Xiao, Q., Graham, D., Mo, J.-R., Burkhardt, M., Kulkarni, V., Crispino, J., Hering, H., et al. (2011) · The American Journal of Pathology · doi:10.1016/j.ajpath.2010.11.002 · Cited by 107
Van Mossevelde, S., van der Zee, J., Gijselinck, I., Engelborghs, S., Sieben, A., Van Langenhove, T., De Bleecker, J., Baets, J., Vandenbulcke, M., Van Laere, K., et al. (2016) · Brain · doi:10.1093/brain/awv358 · Cited by 98
Self-citationReifschneider, A., Robinson, S., van Lengerich, B., Gnörich, J., Logan, T., Heindl, S., Vogt, M. A., Weidinger, E., Riedl, L., Wind, K., et al. (2022) · The EMBO Journal · doi:10.15252/embj.2021109108 · Cited by 89
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
Huin, V., Barbier, M., Bottani, A., Lobrinus, J. A., Clot, F., Lamari, F., Chat, L., Rucheton, B., Fluchère, F., Auvin, S., et al. (2020) · Brain · doi:10.1093/brain/awz377 · Cited by 96
Irwin, D. J., Trojanowski, J. Q., & Grossman, M. (2013) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2013.00006 · Cited by 96
Nuclear pore complexes — a doorway to neural injury in neurodegeneration
Coyne, A. N., & Rothstein, J. D. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00653-6 · Cited by 96
Moisse, K., Mepham, J., Volkening, K., Welch, I., Hill, T., & Strong, M. J. (2009) · Brain Research · doi:10.1016/j.brainres.2009.07.023 · Cited by 93
Womack, K. B., Diaz-Arrastia, R., Aizenstein, H. J., Arnold, S. E., Barbas, N. R., Boeve, B. F., Clark, C. M., DeCarli, C. S., Jagust, W. J., Leverenz, J. B., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.295 · Cited by 85
Characteristics of frontotemporal dementia patients with a Progranulin mutation
Huey, E. D., Grafman, J., Wassermann, E. M., Pietrini, P., Tierney, M. C., Ghetti, B., Spina, S., Baker, M., Hutton, M., Elder, J. W., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20969 · Cited by 87
Ramos, E. M., Dokuru, D. R., Van Berlo, V., Wojta, K., Wang, Q., Huang, A. Y., Deverasetty, S., Qin, Y., van Blitterswijk, M., Jackson, J., et al. (2020) · Alzheimer's & Dementia · doi:10.1002/alz.12011 · Cited by 80
Self-citationCsf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia
Borroni, B., Benussi, A., Archetti, S., Galimberti, D., Parnetti, L., Nacmias, B., Sorbi, S., Scarpini, E., & Padovani, A. (2015) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2014.971812 · Cited by 77
Progranulin Gene Delivery Protects Dopaminergic Neurons in a Mouse Model of Parkinson’s Disease
Van Kampen, J. M., Baranowski, D., & Kay, D. G. (2014) · PLoS ONE · doi:10.1371/journal.pone.0097032 · Cited by 76
Boeve, B. F. (2007) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e31815bf454 · Cited by 73
TDP-43 and Inflammation: Implications for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Bright, F., Chan, G., van Hummel, A., Ittner, L. M., & Ke, Y. D. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22157781 · Cited by 71
Remnestål, J., Öijerstedt, L., Ullgren, A., Olofsson, J., Bergström, S., Kultima, K., Ingelsson, M., Kilander, L., Uhlén, M., Månberg, A., et al. (2020) · Translational Neurodegeneration · doi:10.1186/s40035-020-00198-y · Cited by 56
Wexler, E. M., Rosen, E., Lu, D., Osborn, G. E., Martin, E., Raybould, H., & Geschwind, D. H. (2011) · Science Signaling · doi:10.1126/scisignal.2002282 · Cited by 56
FTD spectrum: Neuroimaging across the FTD spectrum
Whitwell, J. L. (2019) · Progress in Molecular Biology and Translational Science · doi:10.1016/bs.pmbts.2019.05.009 · Cited by 53
Advances in treatment of frontotemporal dementia
Magrath Guimet, N., Zapata-Restrepo, L. M., & Miller, B. L. (2022) · The Journal of Neuropsychiatry and Clinical Neurosciences · doi:10.1176/appi.neuropsych.21060166 · Cited by 52
Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis
Chen, Y., Li, S., Su, L., Sheng, J., Lv, W., Chen, G., & Xu, Z. (2015) · Journal of Neurology · doi:10.1007/s00415-014-7630-2 · Cited by 50
Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology
Yang, H.-S., White, C. C., Klein, H.-U., Yu, L., Gaiteri, C., Ma, Y., Felsky, D., Mostafavi, S., Petyuk, V. A., Sperling, R. A., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.05.010 · Cited by 47
Heuer, H. W., Wang, P., Rascovsky, K., Wolf, A., Appleby, B., Bove, J., Bordelon, Y., Brannelly, P., Brushaber, D. E., Caso, C., et al. (2020) · Alzheimer's & Dementia · doi:10.1002/alz.12046 · Cited by 43
Self-citationGenetic risk factors for Alzheimer disease: emerging roles of microglia in disease pathomechanisms
Takatori, S., Wang, W., Iguchi, A., & Tomita, T. (2019) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-05542-4_5 · Cited by 44
Butler, V. J., Cortopassi, W. A., Gururaj, S., Wang, A. L., Pierce, O. M., Jacobson, M. P., & Kao, A. W. (2019) · Biochemistry · doi:10.1021/acs.biochem.9b00275 · Cited by 42
WDR41 supports lysosomal response to changes in amino acid availability
Amick, J., Tharkeshwar, A. K., Amaya, & Ferguson, S. M. (2018) · Molecular Biology of the Cell · doi:10.1091/mbc.e17-12-0703 · Cited by 39
Root, J., Mendsaikhan, A., Taylor, G., Merino, P., Nandy, S., Wang, M., Araujo, L. T., Ryu, D., Holler, C., Thompson, B. M., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114985 · Cited by 39
Butler, V. J., Gao, F., Corrales, C. I., Cortopassi, W. A., Caballero, B., Vohra, M., Ashrafi, K., Cuervo, A. M., Jacobson, M. P., Coppola, G., et al. (2019) · PLOS Genetics · doi:10.1371/journal.pgen.1008295 · Cited by 39
Sha, S. J., Miller, Z. A., Min, S., Zhou, Y., Brown, J., Mitic, L. L., Karydas, A., Koestler, M., Tsai, R., Corbetta‐Rastelli, C., et al. (2017) · Alzheimer's & Dementia: Translational Research & Clinical Interventions · doi:10.1016/j.trci.2017.08.002 · Cited by 36
AZP2006, a new promising treatment for Alzheimer’s and related diseases
Callizot, N., Estrella, C., Burlet, S., Henriques, A., Brantis, C., Barrier, M., Campanari, M. L., & Verwaerde, P. (2021) · Scientific Reports · doi:10.1038/s41598-021-94708-1 · Cited by 35
Metadata
- Authors
- Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., van Duijn, C., Peeters, K., Sciot, R., Santens, P., De Pooter, T., Mattheijssens, M., Van den Broeck, M., Cuijt, I., Vennekens, K., De Deyn, P. P., Kumar-Singh, S., & Van Broeckhoven, C.
- Affiliations
- Vlaams Instituut voor Biotechnologie (BE)
- University of Antwerp (BE)
- Ghent University Hospital (BE)
- KU Leuven (BE)
- ORCID
- Venue
- Nature
- Published
- 2006-07-16
- Volume
- 442
- Issue
- 7105
- Pages
- 920-924
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2005731595
- Cited by
- 1,512
- References
- 25
- Citations by year
- 2026: 32 · 2025: 50 · 2024: 53 · 2023: 56 · 2022: 52 · 2021: 73 · 2020: 67 · 2019: 83 · 2018: 68 · 2017: 82 · 2016: 78 · 2015: 55 · 2014: 78 · 2013: 77 · 2012: 90
- FWCI
- 77.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- progranulin, frontotemporal dementia, chromosome 17q21, haploinsufficiency, splice donor site mutation, premature stop codon, MAPT, tau protein, neurodegeneration
- MeSH terms
- Progranulins, Belgium, Chromosomes, Human, Pair 17, Dementia, DNA Mutational Analysis, Frontal Lobe, Humans, Genetic Linkage, Mutation, Temporal Lobe, Physical Chromosome Mapping, RNA Splice Sites, Ubiquitin, Intercellular Signaling Peptides and Proteins
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