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 journal › Article

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

Courtney, David G ; Toftgaard Poulsen, Ebbe ; Kennedy, Susan ; Moore, Johnny E ; Atkinson, Sarah ; Maurizi, Eleonora ; Nesbit, M. Andrew ; Moore, Tara ; Enghild, Jan J. / Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2015 ; Vol. 56, No. 8. pp. 4653-4661.
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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.",
keywords = "Transforming growth factor beta-induced, Granular Corneal Dystrophy, Lattice Corneal Dystrophy",
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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; 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 journal › Article

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

IS - 8

ER -

Courtney DG, Toftgaard Poulsen E, Kennedy S, Moore JE, Atkinson S, Maurizi E et al. Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2015;56(8):4653-4661. https://doi.org/10.1167/iovs.15-16922

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