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Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Murray LS, et al. Among authors: van regemorter n, van agtmael t. Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2. Hum Mol Genet. 2014. PMID: 24001601 Free PMC article.
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Among authors: van agtmael t. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
Basement membrane collagens and disease mechanisms.
Gatseva A, Sin YY, Brezzo G, Van Agtmael T. Gatseva A, et al. Among authors: van agtmael t. Essays Biochem. 2019 Sep 13;63(3):297-312. doi: 10.1042/EBC20180071. Print 2019 Sep 13. Essays Biochem. 2019. PMID: 31387942 Free PMC article. Review.
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M, Goodwin-Trotman M, Bell S, Patel K, Fleming LK, Vilain C, Abramowicz M, Allan SM, Wang T, Cader MZ, Horsburgh K, Van Agtmael T, Sinha S, Markus HS, Granata A. Al-Thani M, et al. Among authors: van agtmael t. Stem Cell Reports. 2023 Dec 12;18(12):2386-2399. doi: 10.1016/j.stemcr.2023.10.014. Epub 2023 Nov 16. Stem Cell Reports. 2023. PMID: 37977146 Free PMC article.
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
McNeilly S, Thomson CR, Gonzalez-Trueba L, Sin YY, Granata A, Hamilton G, Lee M, Boland E, McClure JD, Lumbreras-Perales C, Aman A, Kumar AA, Cantini M, Gök C, Graham D, Tomono Y, Anderson CD, Lu Y, Smith C, Markus HS, Abramowicz M, Vilain C, Al-Shahi Salman R, Salmeron-Sanchez M, Hainsworth AH, Fuller W, Kadler KE, Bulleid NJ, Van Agtmael T. McNeilly S, et al. Among authors: van agtmael t. EBioMedicine. 2024 Sep;107:105315. doi: 10.1016/j.ebiom.2024.105315. Epub 2024 Aug 30. EBioMedicine. 2024. PMID: 39216230 Free PMC article.
35 results