Gene Symbol: Chmp2b
Description: charged multivesicular body protein 2B
Alias: 1190006E07Rik, charged multivesicular body protein 2b, chromatin modifying protein 2B
Skibinski G, Parkinson N, Brown J, Chakrabarti L, Lloyd S, Hummerich H, et al
. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005;37:806-8 pubmed
..Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in ..
Ghazi Noori S, Froud K, Mizielinska S, Powell C, Smidak M, Fernández de Marco M, et al
. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain. 2012;135:819-32 pubmed publisher
Mutations in the charged multivesicular body protein 2B (CHMP2B) gene cause frontotemporal lobar degeneration. The mutations lead to C-terminal truncation of the CHMP2B protein...
Chassefeyre R, MartÃnez HernÃ¡ndez J, Bertaso F, Bouquier N, Blot B, Laporte M, et al
. Regulation of postsynaptic function by the dementia-related ESCRT-III subunit CHMP2B. J Neurosci. 2015;35:3155-73 pubmed publisher
..Mutations in human CHMP2B cause frontotemporal dementia, suggesting that this protein may normally control some neuron-specific process...
Xu J, Nonogaki M, Madhira R, Ma H, Hermanson O, Kioussi C, et al
. Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons. PLoS ONE. 2012;7:e48573 pubmed publisher
b>Chmp2b is closely related to Vps2, a key component of the yeast protein complex that creates the intralumenal vesicles of multivesicular bodies...
Gascon E, Lynch K, Ruan H, Almeida S, Verheyden J, Seeley W, et al
. Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia. Nat Med. 2014;20:1444-51 pubmed publisher
..Here we show that forebrain-specific expression of FTD-associated mutant CHMP2B in mice causes several age-dependent neurodegenerative phenotypes, including social behavioral impairments...
Watson J, Bhattacharyya B, Vaden J, Wilson J, Icyuz M, Howard A, et al
. Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS. PLoS Genet. 2015;11:e1005290 pubmed publisher
..Our results indicate that HGS has multiple roles in the nervous system and demonstrate a previously unanticipated requirement for ESCRTs in the maintenance of synaptic transmission. ..
Clayton E, Mizielinska S, Edgar J, Nielsen T, Marshall S, Norona F, et al
. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. Acta Neuropathol. 2015;130:511-23 pubmed publisher
Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal dementia (FTD)...
Vernay A, Therreau L, Blot B, Risson V, Dirrig Grosch S, Waegaert R, et al
. A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. 2016;25:3341-3360 pubmed publisher
Mutations in the charged multivesicular body protein 2B (CHMP2B) are associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and with a mixed ALS-FTD syndrome...
Clayton E, Mancuso R, Nielsen T, Mizielinska S, Holmes H, Powell N, et al
. Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation. Hum Mol Genet. 2017;26:873-887 pubmed publisher
Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B...