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

Research output: Contribution to journalArticle

15 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.
LanguageEnglish
Pages4653-4661
Number of pages8
JournalINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume56
Issue number8
DOIs
Publication statusPublished - 2015

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Amyloid
Peptide Hydrolases
Phenotype
Mutation
Proteins
Corneal dystrophy Avellino type
betaIG-H3 protein

Keywords

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

Cite this

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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.",
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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; Moore, Johnny E; Atkinson, Sarah; Maurizi, Eleonora; Nesbit, M. Andrew; Moore, Tara; Enghild, Jan J.

In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 56, No. 8, 2015, p. 4653-4661.

Research output: Contribution to journalArticle

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

U2 - 10.1167/iovs.15-16922

DO - 10.1167/iovs.15-16922

M3 - Article

VL - 56

SP - 4653

EP - 4661

JO - Investigative Ophthalmology and Visual Science

T2 - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

SN - 0146-0404

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ER -