Our latest research and project-relevant publications.


Jones F…Horsburgh K…Van Agtmael T. (2018). 4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease. Human Molecular Genetics. (doi:10.1093/hmg/ddy369)

Horsburgh K. et al. (2018). Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology. Clinical Science (Lond) 132, 851-868, (doi:10.1042/CS20171620)

Hainsworth, A, Allan, S…Troen (2017). Translational models for vascular cognitive impairment: a review including larger species. BMC Medicine15(1), 16. (doi:10.1186/s12916-017-0793-9)

Granata A,Sinha, S. (2017). An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. Nature Genetics, 49(1), 97. (doi:10.1038/ng.3723)

Jones F…Van Agtmael T. (2016). ER-stress and basement membrane defects combine to cause glomerular and tubular renal disease caused by Col4a1 mutations. Disease Models and Mechanisms. 9:165-176. (doi:10.1242/dmm.021741)

Handel A…Cader Z. (2016). Assessing similarity to primary tissue and cortical layer identity in induced pluripotent stem cell-derived cortical neurons through single-cell transcriptomics. Human Molecular Genetics. 25(5):989-1000. (doi:10.1093/hmg/ddv637)

Searcy JL…Horsburgh K. (2014) Impact of age on the cerebrovascular proteomes of wild-type and Tg-SwDI mice. Plos One 9(2):e89970. (doi:10.1371/journal.pone.0089970)

Lanfranconi, S. & Markus, H. S. (2010). COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 41, e513–8 (2010). (doi:10.1161/STROKEAHA.110.581918)

McColl B, Rothwell N & Allan S (2008) Systemic inflammation alters the kinetics of cerebrovascular tight junction disruption after experimental stroke in mice. J. Neurosci. 28:9451-62. (doi:10.1523/JNEUROSCI.2674-08.2008)

Van Agtmael T. et al. (2005). Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Human Molecular Genetics, 14,3161-3168 (doi:10.1093/hmg/ddi348)