Isaacs A - Search Results

1

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease.

Filimonenko M, Stuffers S, Raiborg C, Yamamoto A, Malerød L, Fisher EM, Isaacs A, Brech A, Stenmark H, Simonsen A. Filimonenko M, et al. Among authors: isaacs a. J Cell Biol. 2007 Nov 5;179(3):485-500. doi: 10.1083/jcb.200702115. J Cell Biol. 2007. PMID: 17984323 Free PMC article.

2

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. van der Zee J, et al. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22. Hum Mol Genet. 2008. PMID: 17956895

3

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.

Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium. Lindquist SG, et al. Among authors: isaacs am. Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15. Eur J Neurol. 2008. PMID: 18484988

4

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander.

Banks GT, Kuta A, Isaacs AM, Fisher EM. Banks GT, et al. Among authors: isaacs am. Mamm Genome. 2008 May;19(5):299-305. doi: 10.1007/s00335-008-9117-x. Epub 2008 Jul 1. Mamm Genome. 2008. PMID: 18592312 Free PMC article. Review.

5

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. Urwin H, et al. Among authors: isaacs am. Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223751 Free PMC article.

6

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice.

Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM. Ghazi-Noori S, et al. Among authors: isaacs am. Brain. 2012 Mar;135(Pt 3):819-32. doi: 10.1093/brain/aws006. Brain. 2012. PMID: 22366797

7

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. Nielsen TT, et al. J Gene Med. 2012 Aug;14(8):521-9. doi: 10.1002/jgm.2649. J Gene Med. 2012. PMID: 22786763

8

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.

Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM. Fratta P, et al. Sci Rep. 2012;2:1016. doi: 10.1038/srep01016. Epub 2012 Dec 21. Sci Rep. 2012. PMID: 23264878 Free PMC article.

9

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.

Clayton EL, Mizielinska S, Edgar JR, Nielsen TT, Marshall S, Norona FE, Robbins M, Damirji H, Holm IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium; Isaacs AM. Clayton EL, et al. Among authors: isaacs am. Acta Neuropathol. 2015 Oct;130(4):511-23. doi: 10.1007/s00401-015-1475-3. Epub 2015 Sep 10. Acta Neuropathol. 2015. PMID: 26358247 Free PMC article.

10

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Fratta P, et al. Among authors: isaacs am. EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15. EMBO J. 2018. PMID: 29764981 Free PMC article.

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