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Charged multivesicular body protein 2B

CHMP2B, charged multivesicular body protein 2B
This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: TDP-43, Arylamine N-Acetyltransferase, MAPT, Als, FUS
Papers on CHMP2B
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Isaacs et al., Copenhagen, Denmark. In Acta Neuropathol, 31 Oct 2015
Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal dementia (FTD).
Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia.
Sweeney et al., York, United Kingdom. In J Cell Biol, Apr 2015
Examination of Rab8 mutants or motor neurons expressing a mutant ESCRT-III subunit, CHMP2B(Intron5), at the Drosophila melanogaster neuromuscular junction synapse revealed synaptic overgrowth and endosomal dysfunction.
Regulation of postsynaptic function by the dementia-related ESCRT-III subunit CHMP2B.
Goldberg et al., Grenoble, France. In J Neurosci, Mar 2015
Mutations in human CHMP2B cause frontotemporal dementia, suggesting that this protein may normally control some neuron-specific process.
Association of prostate cancer risk variants with gene expression in normal and tumor tissue.
Stampfer et al., Boston, United States. In Cancer Epidemiol Biomarkers Prev, Jan 2015
RESULTS: In addition to confirming previously reported associations, we detected several new significant (P < 0.05) associations of variants with the expression of nearby genes including C2orf43, ITGA6, MLPH, CHMP2B, BMPR1B, and MTL5.
Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.
Gao et al., Worcester, United States. In Nat Med, Dec 2014
Here we show that forebrain-specific expression of FTD-associated mutant CHMP2B in mice causes several age-dependent neurodegenerative phenotypes, including social behavioral impairments.
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.
Rogaeva et al., Toronto, Canada. In Exp Neurol, Dec 2014
Two of the genes causing FTD alone (CHMP2B and GRN) are associated with damaged autophagy/lysosomal pathway.
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Borroni et al., Brescia, Italy. In Front Aging Neurosci, Dec 2014
Genetic studies have identified several genes associated with monogenic FTD: microtubule-associated protein tau, progranulin, TAR DNA-binding protein 43, valosin-containing protein, charged multivesicular body protein 2B, fused in sarcoma, and the hexanucleotide repeat expansion in intron 1 of the chromosome 9 open reading frame 72.
Genetics of Alzheimer's Disease and Frontotemporal Dementia.
Sorbi et al., Florence, Italy. In Curr Mol Med, Nov 2014
Up to now, the genetics of familial forms of FTD is related to 7 genes: the microtubule-associated protein tau (MAPT) progranulin (GRN), the valosin-containing protein (VCP), chromatin-modifying 2B (CHMP2B), the TARDNA binding protein 43 encoding gene (TARBDP), fused in sarcoma (FUS) and the last hexanucleotide expansion repeats in the open reading frame of chromosome 9 (C9orf72).
[The genetics of corticobasal syndrome].
Tanaka et al., Yokohama, Japan. In Brain Nerve, 2013
FTLD is also associated with VCP, CHMP2B, TARDBP and FUS mutations, but each of these account for <1% of familial FTLD cases.
Mouse models of frontotemporal dementia.
Roberson, Birmingham, United States. In Ann Neurol, 2012
MAPT/tau, GRN/progranulin, and C9ORF72 have emerged as common FTD genes, and TARDBP/TDP-43, VCP, FUS, and CHMP2B have been identified as less common genetic causes.
Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management.
Matthews et al., Indianapolis, United States. In Cns Drugs, 2012
Mutations in MAPT, PGRN, TARDBP, VCP and CHMP2B have been described, along with a recently identified C9ORF72 hexanucleotide repeat expansion.
The genetics and neuropathology of frontotemporal lobar degeneration.
Cruts et al., Antwerp, Belgium. In Acta Neuropathol, 2012
Rare mutations were also identified in the genes encoding valosin-containing protein (VCP) and charged multivesicular body protein 2B (CHMP2B).
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.
Lee et al., Taej┼Ćn, South Korea. In Biochem Biophys Res Commun, 2012
This study provided a better understanding of the cellular pathogenesis of neurodegenerative diseases associated with various missense mutations of CHMP2B as well as endocytic defects.
Charged multivesicular body protein 2B (CHMP2B) of the endosomal sorting complex required for transport-III (ESCRT-III) polymerizes into helical structures deforming the plasma membrane.
Sadoul et al., Grenoble, France. In J Biol Chem, 2011
CHMP2B polymerization scaffolds membranes in vivo represents a first step toward demonstrating its structural role during outward membrane deformation
Frontotemporal dementia caused by CHMP2B mutations.
FReJA consortium et al., London, United Kingdom. In Curr Alzheimer Res, 2011
recent advances in our understanding of the molecular basis of CHMP2B mutations indicate that the mechanisms involved may be broadly relevant to neurodegenerative processes.[review]
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
French Research Network on FTD and FTD/MND et al., Paris, France. In J Neurol, 2010
A novel heterozygous variant p.Ser194Leu (c.581C>T) is found in exon 6 of the CHMP2B gene in one male patient with pure frontotemporal lobar degeneration.
CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines.
Goldberg et al., Grenoble, France. In J Cell Sci, 2010
CHMP2B is required for spine growth. Taken together, these results demonstrate that a mutant ESCRT-III subunit linked to a human neurodegenerative disease can disrupt the normal pattern of spine development.
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.
Heutink et al., Rotterdam, Netherlands. In Lancet Neurol, 2008
20-30% of cases of FTD follow an autosomal dominant pattern of inheritance, and half of which are caused by defects in MAPT, CHMP2B, and VCP.
ESCRT-III recognition by VPS4 ATPases.
Sundquist et al., Salt Lake City, United States. In Nature, 2007
Structures of VPS4A MIT-CHMP1A and VPS4B MIT-CHMP2B complexes reveal that the C-terminal CHMP motif forms an amphipathic helix that binds in a groove between the last two helices of the tetratricopeptide-like repeat (TPR) of the VPS4 MIT domain, but in the opposite orientation to that of a canonical TPR interaction.
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Collinge et al., London, United Kingdom. In Nat Genet, 2005
identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of family with autosomal dominant frontotermporal dementia
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