Article
In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.
The Journal of pathology - 1 Oct 2020
Hongisto Heidi, Dewing Jennifer M, Christensen David Rg, Scott Jennifer, Cree Angela J, Nättinen Janika, Määttä Juha, Jylhä Antti, Aapola Ulla, Uusitalo Hannu, Kaarniranta Kai, Ratnayaka J Arjuna, Skottman Heli, Lotery Andrew J
Abstract excerpt
Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disease of the macula that leads to bilateral loss of central vision and is caused by mutations in the TIMP3 gene. However, the mechanisms by which TIMP3 mutations cause SFD are poorly understood. Here, we generated human induced pluripotent stem cell-derived retinal pigmented epithelial (hiPSC-RPE) cells from three SFD patients carrying TIMP3...
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