The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion
Open accessAbstract
Loss of function mutations in progranulin cause tau-negative frontotemporal lobar degeneration with ubiquitin-positive inclusions. A major protein component of these inclusions is TDP-43, which becomes hyperphosphorylated, ubiquitinated, and cleaved to generate C-terminal fragments, which apparently translocate from nuclei to the cytoplasm. Most progranulin mutations are nonsense mutations resulting in nonsense-mediated mRNA decay and consequently reduced progranulin protein levels. However, some missense mutations are described that occur within the signal sequence and mature progranulin. We now demonstrate that a progranulin mutation located within the signal sequence (PGRN A9D) results in cytoplasmic missorting with extremely low expression. In contrast, two other progranulin mutations (PGRN P248L and R432C) are expressed as immature proteins but are inefficiently transported through and partially degraded within the secretory pathway, resulting in a significantly reduced secretion. Thus apparently all progranulin mutations cause reduced protein expression or secretion, although by different cellular mechanisms. To investigate a putative relationship between reduced expression of progranulin and TDP-43 relocalization and deposition, we down-regulated progranulin in human cell lines and in zebrafish. Upon reduction of progranulin, neither a major redistribution of TDP-43 nor proteolytic processing to disease-characterizing C-terminal fragments could be observed.
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Cites
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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
Self-citationSoluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide
Haass, C., & Selkoe, D. J. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2101 · Cited by 4,744
Self-citationAssociation 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
Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., et al. (2006) · Nature · doi:10.1038/nature05017 · Cited by 1,512
Progranulin is a mediator of the wound response
He, Z., Ong, C. H. P., Halper, J., & Bateman, A. (2003) · Nature Medicine · doi:10.1038/nm816 · Cited by 490
Classification and Description of Frontotemporal Dementias
NEARY, D., SNOWDEN, J. S., & MANN, D. M. A. (2000) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2000.tb06904.x · Cited by 99
Cited by
Bang, J., Spina, S., & Miller, B. L. (2015) · The Lancet · doi:10.1016/s0140-6736(15)00461-4 · Cited by 1,144
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish
Hruscha, A., Krawitz, P., Rechenberg, A., Heinrich, V., Hecht, J., Haass, C., & Schmid, B. (2013) · Development · doi:10.1242/dev.099085 · Cited by 478
Self-citationThe granulin gene family: from cancer to dementia
Bateman, A., & Bennett, H. P. J. (2009) · BioEssays · doi:10.1002/bies.200900086 · Cited by 337
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
Ghidoni, R., Benussi, L., Glionna, M., Franzoni, M., & Binetti, G. (2008) · Neurology · doi:10.1212/01.wnl.0000325058.10218.fc · Cited by 299
Metadata
- Authors
- Shankaran, S. S., Capell, A., Hruscha, A. T., Fellerer, K., Neumann, M., Schmid, B., & Haass, C.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 2008-01
- Volume
- 283
- Issue
- 3
- Pages
- 1744-1753
- ISSN
- 0021-9258 (ISSN-L)
- OpenAlex
- W2077792283
- Cited by
- 170
- References
- 7
- FWCI
- 9.62
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Shankaran, S. S., Capell, A., Hruscha, A. T., Fellerer, K., Neumann, M., Schmid, B., & Haass, C. (2008). Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion. Journal of Biological Chemistry. https://doi.org/10.1074/jbc.m705115200
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