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References

These sources were used to develop the Genetics Home Reference gene summary on the CHMP2B gene.

Entrez Gene
Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P. Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia. Alzheimer Dis Assoc Disord. 2010 Jun 29. [Epub ahead of print]. PubMed citation
Lee JA, Gao FB. ESCRT, autophagy, and frontotemporal dementia. BMB Rep. 2008 Dec 31;41(12):827-32. Review. PubMed citation
Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J. Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis. 2006;3(3):129-33. PubMed citation
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8. Epub 2005 Jul 24. PubMed citation
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. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10. PubMed citation
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. The role of CHMP2B in frontotemporal dementia. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12. doi: 10.1042/BST0370208. Review. PubMed citation
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. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008 Jan 15;17(2):313-22. Epub 2007 Oct 22. PubMed citation


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