Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

By G. Skibinski, N. Parkinson, Jeremy Brown, L. Chakrabarti, Sarah Lloyd, H. Hummerich, J. Nielsen, John R. Hodges, M. Spillantini, T. Thusgaard and 9 more. Nature Genetics, 2005

844 citations recorded by the source corpus.

Subfields: Cell Biology, Cellular and Molecular Neuroscience, Physiology

View Paper: https://www.semanticscholar.org/paper/2b0f430d0bca62ee3c5df9d389d18aedafe8afdf

How researchers see this paper

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

In Cell Biology

1. Harald A. Stenmark
2. C. Raiborg
3. D. Cleveland

In Cellular and Molecular Neuroscience

1. V. Lee
2. John Q. Trojanowski
3. D. Cleveland
4. Bradford C. Dickerson
5. David S. Knopman
6. Dennis W. Dickson
7. William W. Seeley
8. Lea Teneholz Grinberg

In Physiology

1. Harald A. Stenmark
2. Dennis W. Dickson
3. C. Raiborg
4. V. Lee
5. John Q. Trojanowski
6. William W. Seeley
7. Nick C Fox
8. C. Duyckaerts

Citations in the corpus

• Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “Transgenic mice expressing the intron 5-retention mutant of CHMP2B, but not wild-type CHMP2B, develop progressive neurological deterioration accompanied by axonal pathology and early mortality (Ghazi-Noori et al., 2012).”
• Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration (2011, background): “Notably, mutations of charged multivesicular body protein 2B (CHMP2B), an ESCRT subunit, are linked to FLTD, although these rare cases do not exhibit TDP43 inclusion”
• The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins (2009, background): “Individuals with missense mutations in the ESCRT-III subunit Vps2B develop neurodegenerative diseases known as amyotrophic lateral sclerosis and frontotemporal dementi”
• Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system (2012, background): “It is also noteworthy that, like p97 mutations, mutations in the ESCRT component Chmp2B cause frontotemporal dementia with ubiquitin inclusions (FTD-U”
• The emerging shape of the ESCRT machinery (2007, background): “This, together with the observed dominant-negative effects of CHMP–green fluorescent protein (GFP) fusions in mammalian cell”
• Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration (2007, background): “Frontotemporal lobar degeneration with charged multivesicular body protein 2B (CHMP2B) gene mutation is the cause of FTD linked to chromosome 3 in a large Danish pedigree [68].”
• Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. (2011, background): “…bvFTD is critical, as it has implications for heritability (Hutton et al., 1998; Poorkaj et al., 1998; Spillantini et al., 1998; Watts et al., 2004; Skibinski et al., 2005; Baker et al., 2006; Cruts et al., 2006; Kumar-Singh and Van Broeckhoven, 2007), prognosis (Rascovsky et al., 2005; Roberson…”
• Molecular biology of amyotrophic lateral sclerosis: insights from genetics (2006, background): “Defects in this gene cause adult-onset, autosomal dominant ALS and atypical ALS (slowly progressive with tremors) but not frontotemporal dementia (for an example, see Ref”