Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

David G Courtney; Ebbe Toftgaard Poulsen; Susan Kennedy; Johnny E Moore; Sarah Atkinson; Eleonora Maurizi; M. Andrew Nesbit; Tara Moore; Jan J Enghild

doi:10.1167/iovs.15-16922

Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

David G Courtney
, Ebbe Toftgaard Poulsen
, Susan Kennedy
, Johnny E Moore
, Sarah Atkinson
, Eleonora Maurizi
, M. Andrew Nesbit
, Tara Moore
, Jan J Enghild

Fight for Sight

Research output: Contribution to journal › Article › peer-review

32 Citations (Scopus)

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.

Original language	English
Pages (from-to)	4653-4661
Number of pages	8
Journal	INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume	56
Issue number	8
DOIs	https://doi.org/10.1167/iovs.15-16922
Publication status	Published (in print/issue) - 2015

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Transforming growth factor beta-induced
Granular Corneal Dystrophy
Lattice Corneal Dystrophy

Access to Document

10.1167/iovs.15-16922

Cite this

Courtney, D. G., Toftgaard Poulsen, E., Kennedy, S., Moore, J. E., Atkinson, S., Maurizi, E., Nesbit, M. A., Moore, T., & Enghild, J. J. (2015). Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56(8), 4653-4661. https://doi.org/10.1167/iovs.15-16922

@article{0c50e6354bc44c87bfaebc0d1aa63a21,

title = "Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.",

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.",

keywords = "Transforming growth factor beta-induced, Granular Corneal Dystrophy, Lattice Corneal Dystrophy",

author = "Courtney, \{David G\} and \{Toftgaard Poulsen\}, Ebbe and Susan Kennedy and Moore, \{Johnny E\} and Sarah Atkinson and Eleonora Maurizi and Nesbit, \{M. Andrew\} and Tara Moore and Enghild, \{Jan J\}",

year = "2015",

doi = "10.1167/iovs.15-16922",

language = "English",

volume = "56",

pages = "4653--4661",

journal = "INVESTIGATIVE OPHTHALMOLOGY \& VISUAL SCIENCE",

publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "8",

}

Courtney, DG, Toftgaard Poulsen, E, Kennedy, S, Moore, JE, Atkinson, S, Maurizi, E, Nesbit, MA , Moore, T & Enghild, JJ 2015, 'Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.', INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 56, no. 8, pp. 4653-4661. https://doi.org/10.1167/iovs.15-16922

Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. / Courtney, David G; Toftgaard Poulsen, Ebbe; Kennedy, Susan et al.
In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 56, No. 8, 2015, p. 4653-4661.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

AU - Courtney, David G

AU - Toftgaard Poulsen, Ebbe

AU - Kennedy, Susan

AU - Moore, Johnny E

AU - Atkinson, Sarah

AU - Maurizi, Eleonora

AU - Nesbit, M. Andrew

AU - Moore, Tara

AU - Enghild, Jan J

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Transforming growth factor beta-induced

KW - Granular Corneal Dystrophy

KW - Lattice Corneal Dystrophy

UR - https://pure.ulster.ac.uk/en/publications/protein-composition-of-tgfbi-r124c-and-tgfbi-r555w-associated-agg-3

U2 - 10.1167/iovs.15-16922

DO - 10.1167/iovs.15-16922

M3 - Article

VL - 56

SP - 4653

EP - 4661

JO - INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

JF - INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IS - 8

ER -

Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

A genetic and molecular investigation into the pathomechanism of pterygium

Sarah Atkinson

Cite this

Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

Student theses

A genetic and molecular investigation into the pathomechanism of pterygium

Profiles

Sarah Atkinson

Cite this