Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

By M. Baker, I. Mackenzie, S. Pickering-Brown, J. Gass, Rosa Rademakers, C. Lindholm, J. Snowden, J. Adamson, A. Sadovnick, S. Rollinson and 17 more. Nature, 2006

2,004 citations recorded by the source corpus.

Subfields: Neurology, Physiology

View Paper: https://www.semanticscholar.org/paper/7c45b40d52512a588519c68f6792683c88db877f

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Citations in the corpus

Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023, background): “316 Additionally, mutations in TBK1 are associated with developing FTD, 317,318 and variants in TREM2 increase an individual ’ s risk of developing FTD. 319 In vivo PET studies 320,321 and immunohistochemistry studies 322 – 324 have found increased microglial activation in the frontal and temporal c”
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration (2007, background): “As demonstrated by IHC and biochemistry, the ubiquitinated pathologic protein in these cases is not progranulin, but TDP-43 [4, 57].”
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “This includes the first two identified causal genes encoding the microtubule-associated protein tau (MAPT) (Hutton et al., 1998) and progranulin (PGRN) (Baker et al., 2006; Cruts et al., 2006), which together account for 10%–20% of FTD (Van Langenhove et al., 2012).”
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report (2019, background): “Gene variants in GRN and TMEM106B were shown to be associated with hippocampal sclerosis and TDP-43 proteinopathy risk using allele tests, based on the known relationship of those two genes to FTLD-TDP (Baker et al., 2006; Boeve et al., 2006; Cruts et al., 2006; Van Deerlin et al., 2010).”
Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease. (2007, background): “…1999; Hardy and Gwinn-Hardy, 1999), with the very recent addition of ‘hypoprogranulinopathies’ representing frontotemporal dementia and/or parkinsonism associated with mutations in progranulin (PGRN) and frontotemporal degeneration with ubiquitin-positive inclusions pathology (Baker et al., 2006).”
Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation (2016, positive): “…(GRN) gene, which cause a drastic reduction in progranulin (PGRN) levels, contributing to the pathogenesis of one the most common forms of familial frontotemporal lobar degeneration (FTLD) (Baker et al., 2006; Cruts et al., 2006; Finch et al., 2009; Ghidoni et al., 2008; Sleegers et al., 2009).”
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. (2011, background): “%) had a pathogenic mutation (16 cases with MAPT and seven cases with PGRN mutations).”