CHMP2B Antibody

1. We directly link TDP-43 loss of function toxicity to two genes with rare amyotrophic lateral sclerosis and frontotemporal lobar degeneration-causing mutations, CHMP2B and ErbB4 PMID:27621269
2. these data indicate that the neuronal expression of human CHMP2B(intron5) in areas involved in motor and cognitive functions induces progressive motor alterations associated with dementia symptoms and with histopathological hallmarks reminiscent of both amyotrophic lateral sclerosis and frontotemporal dementia. PMID:27329763
3. Endogenous TMEM106B was partly sequestered in CHMP2B-positive structures. SNP T185 was more associated with CHMP2B than SNP S185, and it enhanced neurotoxicity caused by CHMP2B(Intron5) compared to S185-expressing cells. PMID:26651479
4. Study showed that mutant CHMP2B causes the pathological accumulation of endolysosomal components early in the frontotemporal dementia disease course PMID:26358247
5. Protein kinase CK2 alpha is involved in the phosphorylation of the ESCRT-III subunits CHMP3 and CHMP2B, as well as of VPS4B/SKD1, an ATPase that mediates ESCRT-III disassembly. PMID:24440309
6. Data indicate that knockdown of syntaxin 13 (syx13) further increased the cellular toxicity caused by muaant CHMP2B (CHMP2BIntron5) expression. PMID:24095276
7. CHMP2B immunoreactivity was increased in the dorsal motor nucleus of the vagus nerve in Parkinson's disease and incidental Lewy body disease brains PMID:22989140
8. These findings suggest that endosomal and autophagic pathway is associated with degradation or formation of alpha-synuclein aggregates in alpha-synucleinopathy. PMID:22947304
9. Subjects with CHMP2B mutation show cognitive changes dominated by executive dysfunctions, years before they fulfil diagnostic criteria of FTD. PMID:23142962
10. Direct link between disease-causing mutations and the cellular phenotype in cells originating from CHMP2B mutation patients with frontotemporal dementia. PMID:22786763
11. 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. PMID:22521643
12. CHMP2B polymerization scaffolds membranes in vivo represents a first step toward demonstrating its structural role during outward membrane deformation PMID:21926173
13. 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] PMID:21222599
14. 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. PMID:20625756
15. The results of this study confirmed that mutations in CHMP2B are not a common cause of frontotemporal lobar degeneration. PMID:20412296
16. 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. PMID:20699355
17. analysis of CHMP2B mutations in lower motor neuron predominant amyotrophic lateral sclerosis PMID:20352044
18. The fusion of endosomes with lysosomes is required for neuronal function suggesting a pathogenic mechanism for frontotemporal dementia caused by CHMP2B mutations. PMID:20223751
19. CHMP2B can be used as a reliable marker for GVD in neurons of the AD hippocampus. PMID:20420883
20. there were no significant differences in the frequencies of the IVS4 + 44C/A, 1303C/A, 1254T/C and IVS15Ex16-16C/G polymorphism haplotypes in the patient cohorts (regardless of the degree of hepatic iron deposition) compared to the control cohort PMID:15223008
21. 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 PMID:16041373
22. Mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree. PMID:16431024
23. This studyidentified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. PMID:16807408
24. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. PMID:16941655
25. CHMP2B can be excluded as a susceptibility gene conferring risk to sporadic forms of frontotemporal dementia. PMID:16979267
26. These data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in frontotemporal lobar degeneration. PMID:17956895
27. data indicates that CHMP2B mutations are a rare cause of ALS, and no mutations were found in classic ALS phenotypes. PMID:18270236
28. These data suggest that SgIII, DMT-1 and HNP-1 are implicated in cell-mediated LDL oxidation. PMID:19150442
29. The specificity of DMT1 inhibition by 4 molecules in a cell line is reported. PMID:19179627
30. finding suggests that mutations in CHMP2B have widespread effects throughout the brain, leading to a neuro-anatomical signature distinct from other diseases in the frontotemporal lobar degeneration spectrum PMID:19202337
31. Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons. PMID:19706893

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HGNC: 24537

UNIGENE: Hs.476930

KEGG: hsa:25978

STRING: 9606.ENSP00000263780

OMIM: 600795