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Zhou, V. CHMP2B Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5126 (accessed on 22 September 2026).
Zhou V. CHMP2B Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5126. Accessed September 22, 2026.
Zhou, Vicky. "CHMP2B Gene" Encyclopedia, https://encyclopedia.pub/entry/5126 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CHMP2B Gene. In Encyclopedia. https://encyclopedia.pub/entry/5126
Zhou, Vicky. "CHMP2B Gene." Encyclopedia. Web. 24 December, 2020.
CHMP2B Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/chmp2b

charged multivesicular body protein 2B

genes

References

  1. Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P. Novelmissense mutation in charged multivesicular body protein 2B in a patient withfrontotemporal dementia. Alzheimer Dis Assoc Disord. 2010 Oct-Dec;24(4):397-401. doi: 10.1097/WAD.0b013e3181df20c7.
  2. Lee JA, Gao FB. ESCRT, autophagy, and frontotemporal dementia. BMB Rep. 2008Dec 31;41(12):827-32. Review.
  3. Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, BellJ, 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.
  4. Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H,Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, RossorMN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Mutationsin the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8.
  5. Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, HolmI, 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 ofendocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum MolGenet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100.
  6. Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. The role of CHMP2B infrontotemporal dementia. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12. doi:10.1042/BST0370208. Review.
  7. 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 lobardegeneration are associated with an aberrant endosomal phenotype in vitro. HumMol Genet. 2008 Jan 15;17(2):313-22.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 554
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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