CHMP2B

Summary

Gene Symbol: CHMP2B
Description: charged multivesicular body protein 2B
Alias: ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2b, VPS2 homolog B, chromatin modifying protein 2B, vacuolar protein-sorting-associated protein 2-2
Species: human
Products:     CHMP2B

Top Publications

  1. Parkinson N, Ince P, Smith M, Highley R, Skibinski G, Andersen P, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology. 2006;67:1074-7 pubmed
    Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS...
  2. Cox L, Ferraiuolo L, Goodall E, Heath P, Higginbottom A, Mortiboys H, et al. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS ONE. 2010;5:e9872 pubmed publisher
    ..A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD...
  3. Isaacs A, Johannsen P, Holm I, Nielsen J. Frontotemporal dementia caused by CHMP2B mutations. Curr Alzheimer Res. 2011;8:246-51 pubmed
    b>CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD)...
  4. Effantin G, Dordor A, Sandrin V, Martinelli N, Sundquist W, Schoehn G, et al. ESCRT-III CHMP2A and CHMP3 form variable helical polymers in vitro and act synergistically during HIV-1 budding. Cell Microbiol. 2013;15:213-26 pubmed publisher
    ..to HIV-1 budding, and the CHMP3 contribution is ~ 10-fold more pronounced in concert with CHMP2A than with CHMP2B. This is consistent with surface plasmon resonance affinity measurements that suggest sequential CHMP4B-CHMP3-..
  5. 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 ..
  6. Lee J, Beigneux A, Ahmad S, Young S, Gao F. ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. Curr Biol. 2007;17:1561-7 pubmed
    ..mSnf7-2 binds to CHMP2B, another ESCRT-III subunit, in which a rare dominant mutation is associated with frontotemporal dementia linked to ..
  7. Blair I, Vance C, Durnall J, Williams K, Thoeng A, Shaw C, et al. CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2008;79:849-50 pubmed publisher
  8. Rohrer J, Ahsan R, Isaacs A, Nielsen J, Ostergaard L, Scahill R, et al. Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. Dement Geriatr Cogn Disord. 2009;27:182-6 pubmed publisher
    b>CHMP2B mutations are a rare cause of familial frontotemporal dementia (FTD)...
  9. Morita E, Colf L, Karren M, Sandrin V, Rodesch C, Sundquist W. Human ESCRT-III and VPS4 proteins are required for centrosome and spindle maintenance. Proc Natl Acad Sci U S A. 2010;107:12889-94 pubmed publisher

More Information

Publications109 found, 100 shown here

  1. Belly A, Bodon G, Blot B, Bouron A, Sadoul R, Goldberg Y. CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines. J Cell Sci. 2010;123:2943-54 pubmed publisher
    ..In humans, dominant mutations in the ESCRT-III subunit CHMP2B cause frontotemporal dementia (FTD)...
  2. Strack B, Calistri A, Craig S, Popova E, Gottlinger H. AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding. Cell. 2003;114:689-99 pubmed
    ..These observations identify AIP1 as a component of the viral budding machinery, which serves to link a distinct region in the L domain of HIV-1 p6 and EIAV p9 to ESCRT-III...
  3. Martin Serrano J, Yarovoy A, Perez Caballero D, Bieniasz P, Yaravoy A. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. Proc Natl Acad Sci U S A. 2003;100:12414-9 pubmed
  4. Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, et al. CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett. 2006;398:83-4 pubmed
    ..It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family...
  5. Rizzu P, van Mil S, Anar B, Rosso S, Donker Kaat L, Heutink P, et al. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:944-6 pubmed
    Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3)...
  6. van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, et al. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008;17:313-22 pubmed
    The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3)...
  7. Urwin H, Authier A, Nielsen J, Metcalf D, Powell C, Froud K, et al. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet. 2010;19:2228-38 pubmed publisher
    Mutations in CHMP2B cause frontotemporal dementia (FTD) in a large Danish pedigree, which is termed FTD linked to chromosome 3 (FTD-3), and also in an unrelated familial FTD patient...
  8. Metcalf D, Isaacs A. The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes. Biochem Soc Trans. 2010;38:1469-73 pubmed publisher
  9. von Schwedler U, Stuchell M, Muller B, Ward D, Chung H, Morita E, et al. The protein network of HIV budding. Cell. 2003;114:701-13 pubmed
    ..These studies define a protein network required for human MVB biogenesis and indicate that the entire network participates in the release of HIV and probably many other viruses. ..
  10. Stuchell Brereton M, Skalicky J, Kieffer C, Karren M, Ghaffarian S, Sundquist W. ESCRT-III recognition by VPS4 ATPases. Nature. 2007;449:740-4 pubmed
    ..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 ..
  11. Bodon G, Chassefeyre R, Pernet Gallay K, Martinelli N, Effantin G, Hulsik D, et al. 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. J Biol Chem. 2011;286:40276-86 pubmed publisher
    ..Here, we show that depletion of VPS4 induces specific accumulation of endogenous CHMP2B at the plasma membrane...
  12. Lin H, Lin C, Chen P, Cheng S, Chen P. Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review. BMC Neurol. 2017;17:186 pubmed publisher
    ..genetic analysis applying a targeted next generation sequencing (NGS) panel covering MAPT, GRN, VCP, FUS, CHMP2B, and TARDBP on the proband, followed by Sanger sequencing of candidate genes in eight family members...
  13. Guo C, Hao L, Yang Z, Chai R, Zhang S, Gu Y, et al. Deferoxamine-mediated up-regulation of HIF-1α prevents dopaminergic neuronal death via the activation of MAPK family proteins in MPTP-treated mice. Exp Neurol. 2016;280:13-23 pubmed publisher
    ..and down-regulated the expression of α-synuclein, divalent metal transporter with iron-responsive element (DMT1+IRE), and transferrin receptor (TFR)...
  14. Kühn L. Iron regulatory proteins and their role in controlling iron metabolism. Metallomics. 2015;7:232-43 pubmed publisher
    ..splice variants of iron transporters for import and export at the plasma-membrane, divalent metal transporter 1 (DMT1) and ferroportin are regulated by IRPs...
  15. Linehan W, Rouault T. Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. Clin Cancer Res. 2013;19:3345-52 pubmed publisher
    ..energy sensor, are decreased resulting in diminished p53 levels, decreased expression of the iron importer, DMT1, leading to low cellular iron levels, and to enhanced fatty acid synthesis by diminishing phosphorylation of acetyl ..
  16. Jain M, Joharapurkar A, Patel V, Kshirsagar S, Sutariya B, Patel M, et al. Pharmacological inhibition of prolyl hydroxylase protects against inflammation-induced anemia via efficient erythropoiesis and hepcidin downregulation. Eur J Pharmacol. 2019;843:113-120 pubmed publisher
    ..increase in expression of Duodenal cytochrome B (DcytB), ferroportin (FPN1) and divalent metal transporter 1 (DMT1) in duodenum, and FPN1 and monocyte chemoattractant protein-1 (MCP-1) in liver suggesting an overall influence on ..
  17. Gulec S, Collins J. Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). PLoS ONE. 2013;8:e66010 pubmed publisher
    ..g. Dmt1, Dcytb, Fpn1)...
  18. Espart A, Artime S, Tort Nasarre G, Yara Varón E. Cadmium exposure during pregnancy and lactation: materno-fetal and newborn repercussions of Cd(ii), and Cd-metallothionein complexes. Metallomics. 2018;10:1359-1367 pubmed publisher
    ..the amount of Zn ions available to be transported to the fetus by means of Zn transporters such as ZnT2, ZIP14 and DMT1. Although MTs cannot transport Cd from the mother to the fetus, the divalent DMT1 transporter is suggested to carry ..
  19. Zetzsche A, Schunter N, Zentek J, Pieper R. Accumulation of copper in the kidney of pigs fed high dietary zinc is due to metallothionein expression with minor effects on genes involved in copper metabolism. J Trace Elem Med Biol. 2016;35:1-6 pubmed publisher
    ..and ZIP4, genes involved in Cu metabolism (Ctr1, Atox1, SOD1, ATP7A, CCS, CP) and divalent metal ion transport (DMT1) and binding (MT-1a, MT-2b, MT-3) were determined...
  20. Lunova M, Schwarz P, Nuraldeen R, Levada K, Kuscuoglu D, Stützle M, et al. Hepcidin knockout mice spontaneously develop chronic pancreatitis owing to cytoplasmic iron overload in acinar cells. J Pathol. 2017;241:104-114 pubmed publisher
    ..acinar iron overload and mild pancreatitis, together with elevated expression of the iron uptake mediators DMT1 and Zip14...
  21. Thevenod F, Fels J, Lee W, Zarbock R. Channels, transporters and receptors for cadmium and cadmium complexes in eukaryotic cells: myths and facts. Biometals. 2019;: pubmed publisher
    ..1, CatSper), transient receptor potential (TRP) channels (TRPA1, TRPV5/6, TRPML1), solute carriers (SLCs) (DMT1/SLC11A2, ZIP8/SLC39A8, ZIP14/SLC39A14), amino acid/cystine transporters (SLC7A9/SLC3A1, SLC7A9/SLC7A13), and Cd..
  22. Kong W, Wu Q, Shen D, Zhao S, Guo P, Duan X, et al. Age-dependent expression of duodenal cytochrome b, divalent metal transporter 1, ferroportin 1, and hephaestin in the duodenum of rats. J Gastroenterol Hepatol. 2015;30:513-20 pubmed publisher
    ..The expression of duodenal cytochrome b (DcytB), divalent metal transporter 1 (DMT1), ferroportin 1 (FPN1), hephaestin, and hepcidin were measured by real-time polymerase chain reaction or Western ..
  23. Owusu Boaitey N, Bauckman K, Zhang T, Mysorekar I. Macrophagic control of the response to uropathogenic E. coli infection by regulation of iron retention in an IL-6-dependent manner. Immun Inflamm Dis. 2016;4:413-426 pubmed
    ..that (1) macrophages upon UPEC infection increased expression of lipocalin 2, a siderophore-binding molecule, of Dmt1, a molecule that facilitates macrophage uptake of free iron, and of the intracellular iron cargo molecule ..
  24. Citelli M, Fonte Faria T, Nascimento Silva V, Renovato Martins M, Silva R, Luna A, et al. Obesity promotes alterations in iron recycling. Nutrients. 2015;7:335-48 pubmed publisher
    ..Serum leptin levels were evaluated. The hepcidin, divalent metal transporter-1 (DMT1), FPN and ferritin genes were analyzed by real-time polymerase chain reaction...
  25. Kwakye G, Jiménez J, Thomas M, Kingsley B, McIIvin M, Saito M, et al. Heterozygous huntingtin promotes cadmium neurotoxicity and neurodegeneration in striatal cells via altered metal transport and protein kinase C delta dependent oxidative stress and apoptosis signaling mechanisms. Neurotoxicology. 2019;70:48-61 pubmed publisher
    ..significantly greater intracellular accumulation of Cd and reduced expression of divalent metal transporter 1 (DMT1) protein in the heterozygous HTT striatal cells upon Cd exposure...
  26. Tunca E, Aydin M, Şahin Ü. Interactions and accumulation differences of metal(loid)s in three sea cucumber species collected from the Northern Mediterranean Sea. Environ Sci Pollut Res Int. 2016;23:21020-21031 pubmed
    ..mammata and H. tubulosa were correlated with all elements (except Pb) in divalent metal transporter 1 (DMT1) (divalent cation transporter 1 (DCT1) or natural resistance-associated macrophage protein 2 (NRAMP2)) belonging to ..
  27. Daher R, Karim Z. Iron metabolism: State of the art. Transfus Clin Biol. 2017;24:115-119 pubmed publisher
    ..In addition, in the enterocytes, hepcidin inhibits the iron influx by acting on the apical transporter, DMT1. A defect of hepcidin expression leading to the appearance of a parenchymal iron overload may be genetic or ..
  28. Zhao Y, Zhang L, Yu P, Gou Y, Zhao J, You L, et al. Ceruloplasmin, a Potential Therapeutic Agent for Alzheimer's Disease. Antioxid Redox Signal. 2018;28:1323-1337 pubmed publisher
    ..CP alterations in iron contents were mediated through DMT1(-IRE) and changes in ROS levels, which in turn attenuated the progression of AD through the Erk/p38 and Bcl-2/Bax ..
  29. McCarthy R, Sosa J, Gardeck A, Baez A, Lee C, Wessling Resnick M. Inflammation-induced iron transport and metabolism by brain microglia. J Biol Chem. 2018;293:7853-7863 pubmed publisher
    ..of the Tf receptor (TfR) in IMG cells were up-regulated in response to IL-4, whereas divalent metal transporter-1 (DMT1) and ferritin levels increased in response to LPS or Aβ...
  30. Nemmiche S, Guiraud P. Cadmium-induced oxidative damages in the human BJAB cells correlate with changes in intracellular trace elements levels and zinc transporters expression. Toxicol In Vitro. 2016;37:169-177 pubmed publisher
    ..Cd exposure increased the expression of DMT1 and caused an up-regulation of ZnT1. However, the T calcium channel alpha1G subunit could not be detected...
  31. Konietzka R. Gastrointestinal absorption of uranium compounds--a review. Regul Toxicol Pharmacol. 2015;71:125-33 pubmed publisher
    ..It is here (and in the duodenum) that divalent metal transporter 1 (DMT1), which is primarily responsible for the passage of iron (or uranium?) through the cell membranes, is most strongly ..
  32. Guo C, Zhang Y, Wang T, Zhong M, Yang Z, Hao L, et al. Intranasal deferoxamine attenuates synapse loss via up-regulating the P38/HIF-1α pathway on the brain of APP/PS1 transgenic mice. Front Aging Neurosci. 2015;7:104 pubmed publisher
    ..that are encoded from HIF-1-adaptive genes, including transferrin receptor (TFR), divalent metal transporter 1 (DMT1), and brain-derived neurotrophic factor (BDNF)...
  33. Kumfu S, Chattipakorn S, Fucharoen S, Chattipakorn N. Effects of iron overload condition on liver toxicity and hepcidin/ferroportin expression in thalassemic mice. Life Sci. 2016;150:15-23 pubmed publisher
    ..the roles of L-type calcium channels (LTCC), T-type calcium channels (TTCC) and divalent metal transporter1 (DMT1) in iron-mediated hepatic injury in HT mice...
  34. Ghanim M, Guillot Noël L, Pasquier F, Jornea L, Deramecourt V, Dubois B, et al. CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. J Neurol. 2010;257:2032-6 pubmed publisher
    Two C-truncating CHMP2B (chromatin modifying protein 2B) mutations were recently found in Danish and Belgian families with autosomal dominant forms of frontotemporal lobar degeneration (FTLD)...
  35. Montalbetti N, Simonin A, Simonin C, Awale M, Reymond J, Hediger M. Discovery and characterization of a novel non-competitive inhibitor of the divalent metal transporter DMT1/SLC11A2. Biochem Pharmacol. 2015;96:216-24 pubmed publisher
    Divalent metal transporter-1 (SLC11A2/DMT1) uses the H(+) electrochemical gradient as the driving force to transport divalent metal ions such as Fe(2+), Mn(2+) and others metals into mammalian cells...
  36. Shawki A, Anthony S, Nose Y, Engevik M, Niespodzany E, Barrientos T, et al. Intestinal DMT1 is critical for iron absorption in the mouse but is not required for the absorption of copper or manganese. Am J Physiol Gastrointest Liver Physiol. 2015;309:G635-47 pubmed publisher
    Divalent metal-ion transporter-1 (DMT1) is a widely expressed iron-preferring membrane-transport protein that serves a critical role in erythroid iron utilization...
  37. Watson A, Lipina C, McArdle H, Taylor P, Hundal H. Iron depletion suppresses mTORC1-directed signalling in intestinal Caco-2 cells via induction of REDD1. Cell Signal. 2016;28:412-424 pubmed publisher
    ..Iron depletion increased expression of iron-regulated proteins (TfR, transferrin receptor and DMT1, divalent metal transporter, as predicted, but it also promoted a marked reduction in growth and proliferation of ..
  38. Huang D, Zhuo Z, Fang S, Yue M, Feng J. Different Zinc Sources Have Diverse Impacts on Gene Expression of Zinc Absorption Related Transporters in Intestinal Porcine Epithelial Cells. Biol Trace Elem Res. 2016;173:325-32 pubmed publisher
    ..05). Expression of divalent metal transporter 1 (DMT1) mRNA in control was significantly higher (P < 0.05) than added different zinc sources groups...
  39. Bartusch C, Prange R. ESCRT Requirements for Murine Leukemia Virus Release. Viruses. 2016;8:103 pubmed publisher
    ..In contrast, neither the CHMP2B and CHMP4A isoforms nor CHMP3, CHMP5, and CHMP6 were found to be essential...
  40. Olszewska D, Lonergan R, Fallon E, Lynch T. Genetics of Frontotemporal Dementia. Curr Neurol Neurosci Rep. 2016;16:107 pubmed
    ..Rarer mutations (<5%) occur in other genes such as VPC, CHMP2B, TARDP, FUS, ITM2B, TBK1 and TBP...
  41. Bryszewska M, Laghi L, Zannoni A, Gianotti A, Barone F, Taneyo Saa D, et al. Bioavailability of Microencapsulated Iron from Fortified Bread Assessed Using Piglet Model. Nutrients. 2017;9: pubmed publisher
    ..Gene expression of hepcidin, iron exporter ferroportin (IREG1), and divalent metal transporter 1 (DMT1), together with concentrations of plasma ferritin, showed no significant statistical differences between groups...
  42. Gao Y, Xu Y, Wu D, Yu F, Yang L, Yao Y, et al. Progressive silencing of the zinc transporter Zip8 (Slc39a8) in chronic cadmium-exposed lung epithelial cells. Acta Biochim Biophys Sin (Shanghai). 2017;49:444-449 pubmed publisher
    ..The zinc transporters Zip8, Zip14, and divalent metal transporter 1 (Dmt1) are now emerging as several important metal transporters involved in cellular Cd incorporation and their ..
  43. Zhang C, Tai Y, Chai B, Chew K, Ang E, Tsang F, et al. Transgenic Mice Overexpressing the Divalent Metal Transporter 1 Exhibit Iron Accumulation and Enhanced Parkin Expression in the Brain. Neuromolecular Med. 2017;19:375-386 pubmed publisher
    ..Under normal circumstances, cellular iron and manganese uptake is regulated by the divalent metal transporter 1 (DMT1)...
  44. Schlottmann F, Vera Aviles M, Latunde Dada G. Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells. Metallomics. 2017;9:1389-1393 pubmed publisher
    ..the ferric reductase enzyme, duodenal cytochrome b (Dcytb), before absorption by the divalent metal transporter 1 (DMT1)...
  45. Wolff N, Garrick M, Zhao L, Garrick L, Ghio A, Thevenod F. A role for divalent metal transporter (DMT1) in mitochondrial uptake of iron and manganese. Sci Rep. 2018;8:211 pubmed publisher
    ..Recently, we established that the divalent metal transporter 1 (DMT1) is present in the outer mitochondrial membrane (OMM)...
  46. Pasanen P, Myllykangas L, Poyhonen M, Kiviharju A, Siitonen M, Hardy J, et al. Genetics of dementia in a Finnish cohort. Eur J Hum Genet. 2018;26:827-837 pubmed publisher
    ..Inherited FTD can be caused by hexanucleotide expansions in C9orf72, or variants in GRN, MAPT or CHMP2B. Several other genes have also been linked to FTD or FTD with motor neuron disease...
  47. Lesjak M, Balesaria S, Skinner V, Debnam E, Srai S. Quercetin inhibits intestinal non-haem iron absorption by regulating iron metabolism genes in the tissues. Eur J Nutr. 2019;58:743-753 pubmed publisher
    ..mucosal iron uptake and inhibiting iron efflux from duodenal mucosa, and second by decreasing levels of duodenal DMT1, Dcytb and FPN...
  48. Howard T, Stauffer D, Degnin C, Hollenberg S. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. J Cell Sci. 2001;114:2395-404 pubmed
    ..These observations identify the conserved CHMP/Chmp family as a set of proteins fundamental to understanding multivesicular body sorting in eukaryotic organisms. ..
  49. Nielsen T, Mizielinska S, Hasholt L, Isaacs A, Nielsen J. Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. J Gene Med. 2012;14:521-9 pubmed publisher
    ..A rare genetic variant is caused by a point mutation in the CHMP2B gene...
  50. Araos J, Silva L, Salsoso R, Sáez T, Barros E, Toledo F, et al. Intracellular and extracellular pH dynamics in the human placenta from diabetes mellitus. Placenta. 2016;43:47-53 pubmed publisher
    ..turnover are reported in human syncytiotrophoblasts and lymphocytes from patients with diabetes mellitus type I (DMT1), and a positive correlation between NHEs activity and plasma factors, such as that between thrombin and platelet ..
  51. Mackenzie K, Foot N, Anand S, Dalton H, Chaudhary N, Collins B, et al. Regulation of the divalent metal ion transporter via membrane budding. Cell Discov. 2016;2:16011 pubmed publisher
    ..Here we present evidence that the divalent metal ion transporter (DMT1) is unexpectedly regulated through release in EVs...
  52. Zhang Y, Schmid B, Nielsen T, Nielsen J, Clausen C, Hyttel P, et al. Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B. Stem Cell Res. 2016;17:151-153 pubmed publisher
    ..Mutations in several genes cause familial FTD and one of them is charged multivesicular body protein 2B (CHMP2B) on chromosome 3 (FTD3), a component of the endosomal sorting complex required for ..
  53. Roussel G, Stevens V, Cottin S, McArdle H. The effect of amino acid deprivation on the transfer of iron through Caco-2 cell monolayers. J Trace Elem Med Biol. 2017;40:82-90 pubmed publisher
    ..0001). Both essential and non-essential AA deficiency decreased DMT1 (±IRE) exon1A mRNA expression (respectively p=0.0007 and p=0...
  54. Perfecto A, Elgy C, Valsami Jones E, Sharp P, Hilty F, Fairweather Tait S. Mechanisms of Iron Uptake from Ferric Phosphate Nanoparticles in Human Intestinal Caco-2 Cells. Nutrients. 2017;9: pubmed publisher
    ..In Caco-2 cells, divalent metal transporter-1 (DMT1) and endocytosis inhibitors demonstrated that NP-FePO4 was mainly absorbed via DMT1...
  55. Uberti F, Morsanuto V, Ghirlanda S, Molinari C. Iron Absorption from Three Commercially Available Supplements in Gastrointestinal Cell Lines. Nutrients. 2017;9: pubmed publisher
    ..the first experiments, the kinetics of absorption have been evaluated analyzing the divalent metal transporter 1 (DMT1) expression...
  56. Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, et al. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet. 1995;4:1625-8 pubmed
    ..Like a number of other late onset neurodegenerative diseases, the disease presents at an earlier age when paternally inherited. ..
  57. Villagrán García E, Hurtado López E, Vásquez Garibay E, Troyo Sanromán R, Aguirre Salas L, Larrosa Haro A, et al. INTRODUCTION OF PASTEURIZED/RAW COW'S MILK DURING THE SECOND SEMESTER OF LIFE AS A RISK FACTOR OF TYPE 1 DIABETES MELLITUS IN SCHOOL CHILDREN AND ADOLESCENTS. Nutr Hosp. 2015;32:634-7 pubmed publisher
    ..Objetivo: demostrar que la diabetes mellitus tipo 1 (DMT1) en escolares y adolescentes se asocia a una temprana introducción de leche entera pasteurizada/no pasteurizada ..
  58. Li M, Wang C, Qiao X, Zhang W, Wei S. [The changes of gene expression of iron transporters for duodenal iron uptake and export in diet-induced obese mice]. Zhonghua Yu Fang Yi Xue Za Zhi. 2015;49:275-8 pubmed
    This study aims to determine the gene expression changes of iron transporters-divalent metal transporter 1 (DMT1) and ferroportin 1 (Fpn1) in the duodenal tissue of diet-induced obese mice...
  59. Foot N, Gembus K, MacKenzie K, Kumar S. Ndfip2 is a potential regulator of the iron transporter DMT1 in the liver. Sci Rep. 2016;6:24045 pubmed publisher
    The regulation of divalent metal ion transporter DMT1, the primary non-heme iron importer in mammals, is critical for maintaining iron homeostasis...
  60. Chen P, Li F, Zhou Y, Qian C, Li J, Jiang L, et al. Effects of alpha-lipoic acid on expression of iron transport and storage proteins in BV-2 microglia cells. Pharmacol Rep. 2017;69:1-5 pubmed publisher
    ..investigated the effects of ALA on the expression of transferrin receptor 1 (TfR1), divalent metal transporter 1 (DMT1), ferroportin 1 (Fpn1) and ferritin in BV-2 microglia cells...
  61. Colins A, Gerdtzen Z, Nunez M, Salgado J. Mathematical Modeling of Intestinal Iron Absorption Using Genetic Programming. PLoS ONE. 2017;12:e0169601 pubmed publisher
    ..Recently, the internalization of the DMT1 transporter has been proposed as an additional regulatory mechanism at the intestinal level, associated to the ..
  62. Rigden D, Liu H, Hayes S, Urbé S, Clague M. Ab initio protein modelling reveals novel human MIT domains. FEBS Lett. 2009;583:872-8 pubmed publisher
    ..As a proof of principle, we have confirmed the novel MIT annotation for USP54 by in vitro profiling of binding to CHMP proteins. ..
  63. Tanji K, Zhang H, Mori F, Kakita A, Takahashi H, Wakabayashi K. p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions. J Neurosci Res. 2012;90:2034-42 pubmed publisher
    ..Our results suggest that the interaction of TDP-43 and p62 is disrupted and may participate in the pathogenesis of TDP-43 proteinopathy...
  64. Worthington M, Browne L, Battle E, Luo R. Functional properties of transfected human DMT1 iron transporter. Am J Physiol Gastrointest Liver Physiol. 2000;279:G1265-73 pubmed
    Recently, mutation of the DMT1 gene has been discovered to cause ineffective intestinal iron uptake and abnormal body iron metabolism in the anemic Belgrade rat and mk mouse...
  65. Schumacher A, Friedrich P, Diehl Schmid J, Ibach B, Eisele T, Laws S, et al. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. Neurobiol Aging. 2007;28:1789-90 pubmed
    Mutations of the chromatin modifying protein 2B gene (CHMP2B) were identified, in a Danish pedigree, to cause familial frontotemporal dementia (FTD)...
  66. Stokholm J, Teasdale T, Johannsen P, Nielsen J, Nielsen T, Isaacs A, et al. Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. J Neurol Neurosurg Psychiatry. 2013;84:170-6 pubmed publisher
    A longitudinal study spanning over 8 years and including 17 asymptomatic individuals with CHMP2B mutations was conducted to assess the earliest neuropsychological changes in autosomal dominant neurodegenerative disease frontotemporal ..
  67. Grillo A, SantaMaria A, Kafina M, Cioffi A, Huston N, Han M, et al. Restored iron transport by a small molecule promotes absorption and hemoglobinization in animals. Science. 2017;356:608-616 pubmed publisher
    ..The same compound promotes gut iron absorption in DMT1-deficient rats and ferroportin-deficient mice, as well as hemoglobinization in DMT1- and mitoferrin-deficient ..
  68. Han J, Ryu H, Jun M, Jang D, Lee J. The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway. Biochem Biophys Res Commun. 2012;421:544-9 pubmed publisher
    ..Interestingly, mutations in charged multivesicular body protein 2B (CHMP2B), which is a core subunit of ESCRT-III, have been identified in some neurodegenerative ..
  69. Qin Y, Wei J, Zhang Y, Kang L, Kang B, Shen H, et al. [Mechanism for the inhibition of proliferation and promotion of apoptosis in Huh7.5 cells by iron overload]. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2017;33:1056-1061 pubmed
    ..evaluated by MTT assay; protein and mRNA levels of transferrin receptor (TfR1), TfR2, divalent metal transporter 1 (DMT1) and ferroportin 1 (FPN1) in Huh7...
  70. Rostgaard N, Roos P, Budtz Jørgensen E, Johannsen P, Waldemar G, Nørremølle A, et al. TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiol Aging. 2017;59:221.e1-221.e7 pubmed publisher
    ..In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3)...
  71. Yue Q, Yu Q, Yang Q, Xu Y, Guo Y, Blissard G, et al. Distinct Roles of Cellular ESCRT-I and ESCRT-III Proteins in Efficient Entry and Egress of Budded Virions of Autographa californica Multiple Nucleopolyhedrovirus. J Virol. 2018;92: pubmed publisher
    ..In this study, the core components of ESCRT-I (Tsg101 and Vps28) and ESCRT-III (Vps2B, Vps20, Vps24, Snf7, Vps46, and Vps60) were cloned from Spodoptera frugiperda Using a viral complementation ..
  72. Femlak M, Gluba Brzozka A, Ciałkowska Rysz A, Rysz J. The role and function of HDL in patients with diabetes mellitus and the related cardiovascular risk. Lipids Health Dis. 2017;16:207 pubmed publisher
    ..Both diabetes mellitus types (DMT1 and DMT2) are associated with high risk of developing chronic complications, such as retinopathy, nephropathy, ..
  73. Hirako S, Tsuda H, Ito F, Okazaki Y, Hirayama T, Nagasawa H, et al. Role of catalytic iron and oxidative stress in nitrofen-induced congenital diaphragmatic hernia and its amelioration by Saireito (TJ-114). J Clin Biochem Nutr. 2017;61:176-182 pubmed publisher
    ..in comparison to normal controls, indicating functional lung immaturity, whereas catalytic Fe(II) and pulmonary DMT1/ferroportin expression remained constant among the three groups...
  74. Ferguson C, Wareing M, Ward D, Green R, Smith C, Riccardi D. Cellular localization of divalent metal transporter DMT-1 in rat kidney. Am J Physiol Renal Physiol. 2001;280:F803-14 pubmed
    ..J Physiol (Lond) 524: 581-586, 2000]. To test the possibility that the divalent metal transporter DMT1 (Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, Boron WF, Nussberger S, Gollan JL, and Hediger MA...
  75. Lee J, Liu L, Javier R, Kreitzer A, Delaloy C, Gao F. ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons. Mol Brain. 2011;4:37 pubmed publisher
    ..Indeed, hSnf7-1 and hSnf7-2 are preferentially associated with CHMP2A and CHMP2B, respectively, and regulate the turnover of distinct transmembrane cargos such as neurotransmitter receptors in ..
  76. Sandrin V, Sundquist W. ESCRT requirements for EIAV budding. Retrovirology. 2013;10:104 pubmed publisher
    ..These studies help establish EIAV as a streamlined model system for dissecting the stepwise processes of lentivirus assembly and ESCRT-mediated budding. ..
  77. 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...
  78. Deng B, Zhou X, Wu J, Long C, Yao Y, Peng H, et al. Effects of dietary supplementation with tribasic zinc sulfate or zinc sulfate on growth performance, zinc content and expression of zinc transporters in young pigs. Anim Sci J. 2017;88:1556-1560 pubmed publisher
    ..performance, serum zinc (Zn) content and messenger RNA (mRNA) expression of Zn transporters (ZnT1/ZnT2/ZnT5/ZIP4/DMT1) of young growing pigs...
  79. Pujol Giménez J, Hediger M, Gyimesi G. A novel proton transfer mechanism in the SLC11 family of divalent metal ion transporters. Sci Rep. 2017;7:6194 pubmed publisher
    In humans, the H+-coupled Fe2+ transporter DMT1 (SLC11A2) is essential for proper maintenance of iron homeostasis...
  80. XU M, Wang J, Xie J. Regulation of iron metabolism by hypoxia-inducible factors. Sheng Li Xue Bao. 2017;69:598-610 pubmed
    ..in iron metabolism by regulating the expression of iron-related proteins, such as divalent metal transporter 1 (DMT1), ferroportin 1 (FPN1), duodenal cytochrome b (Dcytb), and transferrin receptor (TfR)...
  81. Gulec A, Gulec S. Ankaferd Influences mRNA Expression of Iron-Regulated Genes During Iron-Deficiency Anemia. Clin Appl Thromb Hemost. 2017;:1076029617737838 pubmed publisher
    ..ABS-derived iron influenced transcriptions of iron-regulated marker genes, including divalent metal transporter ( Dmt1), transferrin receptor ( TfR), ankyrin repeat domain 37 ( Ankrd37), and hepcidin ( Hamp) in IDA-induced Caco-2 and ..
  82. He C, Huang R, Du F, Zheng F, Wei L, Wu J. LDL oxidation by THP-1 monocytes: implication of HNP-1, SgIII and DMT-1. Clin Chim Acta. 2009;402:102-6 pubmed publisher
    ..Furthermore, transient overexpression of HNP-1, SgIII or DMT-1 in THP-1 cells significantly increased THP-1 cell-mediated LDL oxidation. Our data suggest that SgIII, DMT-1 and HNP-1 are implicated in cell-mediated LDL oxidation. ..
  83. Ha J, Doguer C, Collins J. Knockdown of copper-transporting ATPase 1 (Atp7a) impairs iron flux in fully-differentiated rat (IEC-6) and human (Caco-2) intestinal epithelial cells. Metallomics. 2016;8:963-972 pubmed
    ..Expression of Dmt1 (the iron importer), Dcytb (an apical membrane ferrireductase) and Fpn1 (the iron exporter) was decreased in Atp7a ..
  84. Lucas M, Gershlick D, Vidaurrazaga A, Rojas A, Bonifacino J, Hierro A. Structural Mechanism for Cargo Recognition by the Retromer Complex. Cell. 2016;167:1623-1635.e14 pubmed publisher
    ..and VPS35 subunits of retromer, the sorting nexin SNX3, and a recycling signal from the divalent cation transporter DMT1-II. This analysis identifies a binding site for canonical recycling signals at the interface between VPS26 and SNX3...
  85. Sadoul R, Laporte M, Chassefeyre R, Chi K, Goldberg Y, Chatellard C, et al. The role of ESCRT during development and functioning of the nervous system. Semin Cell Dev Biol. 2018;74:40-49 pubmed publisher
    ..The necessity of ESCRT for the harmonious function of the brain has its pathological counterpart, the mutations in CHMP2B of ESCRT-III giving rise to several neurodegenerative diseases.
  86. Mónica A, Lautaro B, Fernando P, Miguel A. Calcium and zinc decrease intracellular iron by decreasing transport during iron repletion in an in vitro model. Eur J Nutr. 2018;57:2693-2700 pubmed publisher
    ..between calcium and zinc on iron uptake and transport, intracellular Fe and Zn levels and mRNA expression of DMT1, ferroportin, Zip4 and ZnT1 in an in vitro model...
  87. Salvi M, Raiborg C, Hanson P, Campsteijn C, Stenmark H, Pinna L. CK2 involvement in ESCRT-III complex phosphorylation. Arch Biochem Biophys. 2014;545:83-91 pubmed publisher
    ..Here we show that protein kinase CK2? 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...
  88. Gilchrist S, Alcorn J. Lactation stage-dependent expression of transporters in rat whole mammary gland and primary mammary epithelial organoids. Fundam Clin Pharmacol. 2010;24:205-14 pubmed publisher
    ..lactation (Octn1, Cnt2, Cnt3, Ent1, Pept1, Pept2); (iii) constant but decreasing later in lactation (Octn3, Dmt1); (iv) increasing until mid-to-late lactation (Oct1, Cnt1); and (v) prominent increase late in lactation (Ncbt1)...
  89. Radulescu S, Brookes M, Salgueiro P, Ridgway R, McGhee E, Anderson K, et al. Luminal iron levels govern intestinal tumorigenesis after Apc loss in vivo. Cell Rep. 2012;2:270-82 pubmed publisher
    ..In this study, we show that after Apc deletion, the cellular iron acquisition proteins TfR1 and DMT1 are rapidly induced. Conversely, restoration of APC reduces cellular iron due to repression of these proteins...
  90. Kurashige T, Takahashi T, Yamazaki Y, Hiji M, Izumi Y, Yamawaki T, et al. Localization of CHMP2B-immunoreactivity in the brainstem of Lewy body disease. Neuropathology. 2013;33:237-45 pubmed publisher
    ..association between alpha-synucleinopathy and autophagy through immunohistochemical analysis of charged multivesicular body protein 2B (CHMP2B), a component of the ESCRT-pathway...
  91. Anderson G, Frazer D. Current understanding of iron homeostasis. Am J Clin Nutr. 2017;106:1559S-1566S pubmed publisher
    ..iron is transported across the apical membrane of the intestinal enterocyte by divalent metal-ion transporter 1 (DMT1) and is exported into the circulation via ferroportin 1 (FPN1)...