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Association for Research in Vision and Ophthalmology, Investigative Ophthalmology & Visual Science, 8(56), p. 4653
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Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
Journal article published in 2015 by
David G. Courtney,
Ebbe Toftgaard Poulsen,
Susan Kennedy,
Johnny E. Moore,
Sarah D. Atkinson,
Eleonora Maurizi,
M. Andrew Nesbit,
C. B. Tara Moore,
Tara Moore,
Jan J. Enghild
This paper is made freely available by the publisher.
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Abstract
The study reveals previously unknown differences between the protein composition of GCD1 and LCD1 aggregates, and confirms the presence of the HtrA1 protease in LCD1-amyloid aggregates. In addition, we find mutation-specific differences in the processing of mutant TGFBIp species, which may contribute to the variable phenotypes noted in TGFBI-related dystrophies.