Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

By M. Cruts, I. Gijselinck, J. Zee, S. Engelborghs, H. Wils, D. Pirici, Rosa Rademakers, R. Vandenberghe, B. Dermaut, J. Martin and 12 more. Nature, 2006

1,503 citations recorded by the source corpus.

Subfields: Neurology, Physiology

View Paper: https://www.semanticscholar.org/paper/f5f8e9a1d01a1705751b76a1c9b2686da16d281f

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Neurology

1. Dennis W. Dickson
2. M. Polymenidou
3. D. Cleveland
4. V. Lee
5. John Q. Trojanowski
6. Shuo-Chien Ling
7. Nick C Fox
8. Julie A. Schneider

In Physiology

1. Dennis W. Dickson
2. John Q. Trojanowski
3. V. Lee
4. Brad Boeve
5. David S. Knopman
6. Julie A. Schneider
7. Ronald C. Petersen
8. Nick C Fox

Citations in the corpus

• 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).”
• Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. (2011, neutral): “…protein tau (MAPT) (Hutton et al., 1998; Poorkaj et al., 1998; Spillantini et al., 1998), charged multi-vesicular body protein 2B (CHMP2B) (Skibinski et al., 2005), valosin-containing protein (VCP) (Watts et al., 2004) and progranulin (PGRN) (Baker et al., 2006; Cruts et al., 2006).”
• Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis (2011, positive): “The most common currently known cause of familial FTLD- TDP involves loss-of-function mutations in the gene for the secreted growth factor progranulin (GRN) (Baker et al., 2006; Cruts et al., 2006).”
• Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration (2007, background): “mosome 9p [4, 5, 20, 55, 56, 57, 68, 75, 77], and the novel (TDP-43) proteinopathy, which is present in most cases of FTLD-U with or without MND [3, 16, 21, 61].”