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Items: 1 to 20 of 51

1.

Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila.

Cheruiyot A, Lee JA, Gao FB, Ahmad ST.

FASEB J. 2014 Feb;28(2):667-75. doi: 10.1096/fj.13-234138. Epub 2013 Oct 24.

2.

Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.

Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A; Frontotemporal dementia Research in Jutland Association (FReJA) consortium.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):170-6. doi: 10.1136/jnnp-2012-303813. Epub 2012 Nov 10.

PMID:
23142962
3.

Localization of CHMP2B-immunoreactivity in the brainstem of Lewy body disease.

Kurashige T, Takahashi T, Yamazaki Y, Hiji M, Izumi Y, Yamawaki T, Matsumoto M.

Neuropathology. 2013 Jun;33(3):237-45. doi: 10.1111/j.1440-1789.2012.01346.x. Epub 2012 Sep 19.

PMID:
22989140
4.

Endosomal sorting related protein CHMP2B is localized in Lewy bodies and glial cytoplasmic inclusions in α-synucleinopathy.

Tanikawa S, Mori F, Tanji K, Kakita A, Takahashi H, Wakabayashi K.

Neurosci Lett. 2012 Oct 3;527(1):16-21. doi: 10.1016/j.neulet.2012.08.035. Epub 2012 Aug 28.

PMID:
22947304
5.

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.

Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium.

J Gene Med. 2012 Aug;14(8):521-9. doi: 10.1002/jgm.2649.

PMID:
22786763
6.

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.

Han JH, Ryu HH, Jun MH, Jang DJ, Lee JA.

Biochem Biophys Res Commun. 2012 May 11;421(3):544-9. doi: 10.1016/j.bbrc.2012.04.041. Epub 2012 Apr 13.

PMID:
22521643
7.

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.

Bodon G, Chassefeyre R, Pernet-Gallay K, Martinelli N, Effantin G, Hulsik DL, Belly A, Goldberg Y, Chatellard-Causse C, Blot B, Schoehn G, Weissenhorn W, Sadoul R.

J Biol Chem. 2011 Nov 18;286(46):40276-86. doi: 10.1074/jbc.M111.283671. Epub 2011 Sep 16.

8.

Frontotemporal dementia caused by CHMP2B mutations.

Isaacs AM, Johannsen P, Holm I, Nielsen JE; FReJA consortium.

Curr Alzheimer Res. 2011 May;8(3):246-51. Review.

9.

CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines.

Belly A, Bodon G, Blot B, Bouron A, Sadoul R, Goldberg Y.

J Cell Sci. 2010 Sep 1;123(Pt 17):2943-54. doi: 10.1242/jcs.068817. Epub 2010 Aug 10.

10.

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A; French Research Network on FTD and FTD/MND.

J Neurol. 2010 Dec;257(12):2032-6. doi: 10.1007/s00415-010-5655-8. Epub 2010 Jul 14.

PMID:
20625756
11.

Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus.

Yamazaki Y, Takahashi T, Hiji M, Kurashige T, Izumi Y, Yamawaki T, Matsumoto M.

Neurosci Lett. 2010 Jun 21;477(2):86-90. doi: 10.1016/j.neulet.2010.04.038. Epub 2010 Apr 24.

PMID:
20420883
12.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

13.

Frontotemporal Dementia, Chromosome 3-Linked.

Holm IE, Nielsen JE, Brown JM, Johannsen P, Isaacs AM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2007 Aug 23 [updated 2012 Oct 4].

14.

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.

Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M; FReJA Consortium, Van Broeckhoven C, Collinge J, Brandner S, Futter C, Isaacs AM.

Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10.

15.

Small molecule inhibitors of divalent metal transporter-1.

Buckett PD, Wessling-Resnick M.

Am J Physiol Gastrointest Liver Physiol. 2009 Apr;296(4):G798-804. doi: 10.1152/ajpgi.90342.2008. Epub 2009 Jan 29.

16.

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis.

Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):849-50. doi: 10.1136/jnnp.2007.140541. Epub 2008 Feb 12. No abstract available.

PMID:
18270236
17.

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C.

Hum Mol Genet. 2008 Jan 15;17(2):313-22. Epub 2007 Oct 22.

18.

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.

Rizzu P, van Mil SE, Anar B, Rosso SM, Donker Kaat L, Heutink P, van Swieten JC.

Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):944-6.

PMID:
16941655
19.

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.

Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, Parisi J, Dickison D, Adamson J, Snowden J, Neary D, Mann D, Hutton M, Pickering-Brown SM.

Neurosci Lett. 2006 May 1;398(1-2):83-4. Epub 2006 Jan 23.

PMID:
16431024
20.

Molecular genetic characterisation of frontotemporal dementia on chromosome 3.

Ashworth A, Lloyd S, Brown J, Gydesen S, Sorensen SA, Brun A, Englund E, Humphreys C, Housman D, Badura M, Stanton V Jr, Taylor K, Cameron J, Munroe D, Johansson J, Rossor M, Fisher EM, Collinge J.

Dement Geriatr Cogn Disord. 1999;10 Suppl 1:93-101.

PMID:
10436350
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