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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, MAPT, Arylamine N-Acetyltransferase, Als, FUS
Papers on CHMP2B
α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy Body disease.
New
Masliah et al., San Diego, United States. In Hum Mol Genet, Feb 2016
α-syn; which is transported via the ESCRT pathway through multi-vesicular bodies for degradation, can also target the degradation of the ESCRT protein CHMP2B, thus generating a roadblock of endocytosed α-syn.
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
New
van Es et al., Utrecht, Netherlands. In Neurobiol Aging, Jan 2016
To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A.
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
New
Isaacs et al., Copenhagen, Denmark. In Acta Neuropathol, 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.
New
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.
New
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.
Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.
Impact
Gao et al., Worcester, United States. In Nat Med, 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.
Review
Rogaeva et al., Toronto, Canada. In Exp Neurol, 2014
Two of the genes causing FTD alone (CHMP2B and GRN) are associated with damaged autophagy/lysosomal pathway.
Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
Review
Borroni et al., Brescia, Italy. In Front Aging Neurosci, 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.
TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.
Lee et al., Taejŏn, South Korea. In Mol Brain, 2014
Mutations in charged multivesicular body protein 2B (CHMP2B), which is involved in endosomal protein trafficking, have been found in chromosome 3-linked frontotemporal dementia.
Parkinsonian syndrome in familial frontotemporal dementia.
Review
Wszolek et al., Katowice, Poland. In Parkinsonism Relat Disord, 2014
Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP).
[The genetics of corticobasal syndrome].
Review
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.
Review
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.
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.
GeneRIF
Lee et al., Taejŏn, 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.
GeneRIF
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.
Review
GeneRIF
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.
GeneRIF
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.
GeneRIF
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.
Review
Impact
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.
Impact
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.
Impact
GeneRIF
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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