Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Ebbe Toftgaard Poulsen; Kasper Runager; Michael W Risør; Thomas Franck Dyrlund; Carsten Scavenius; Henrik Karring; Jeppe Praetorius; Henrik Vorum; Daniel E Otzen; Gordon K Klintworth; Jan J Enghild

doi:10.1002/prca.201300058

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Ebbe Toftgaard Poulsen, Kasper Runager, Michael W Risør, Thomas Franck Dyrlund, Carsten Scavenius, Henrik Karring, Jeppe Praetorius, Henrik Vorum, Daniel E Otzen, Gordon K Klintworth, Jan J Enghild

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

23 Citations (Scopus)

Abstract

In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

Original language	English
Journal	Proteomics - Clinical Applications
Volume	8
Issue	3-4
Pages (from-to)	168-177
Number of pages	10
ISSN	1862-8346
DOIs	https://doi.org/10.1002/prca.201300058
Publication status	Published - Apr 2014

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10.1002/prca.201300058

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Poulsen, E. T., Runager, K., Risør, M. W., Dyrlund, T. F., Scavenius, C., Karring, H., Praetorius, J., Vorum, H., Otzen, D. E., Klintworth, G. K., & Enghild, J. J. (2014). Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. Proteomics - Clinical Applications, 8(3-4), 168-177. https://doi.org/10.1002/prca.201300058

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title = "Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene",

abstract = "In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.",

author = "Poulsen, {Ebbe Toftgaard} and Kasper Runager and Ris{\o}r, {Michael W} and Dyrlund, {Thomas Franck} and Carsten Scavenius and Henrik Karring and Jeppe Praetorius and Henrik Vorum and Otzen, {Daniel E} and Klintworth, {Gordon K} and Enghild, {Jan J}",

note = "{\textcopyright} 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim.",

year = "2014",

month = apr,

doi = "10.1002/prca.201300058",

language = "English",

volume = "8",

pages = "168--177",

journal = "Proteomics - Clinical Applications",

issn = "1862-8346",

publisher = "Wiley-VCH Verlag",

number = "3-4",

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Poulsen, ET, Runager, K, Risør, MW, Dyrlund, TF, Scavenius, C, Karring, H, Praetorius, J, Vorum, H, Otzen, DE, Klintworth, GK & Enghild, JJ 2014, 'Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene', Proteomics - Clinical Applications, vol. 8, no. 3-4, pp. 168-177. https://doi.org/10.1002/prca.201300058

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. / Poulsen, Ebbe Toftgaard; Runager, Kasper; Risør, Michael W et al.
In: Proteomics - Clinical Applications, Vol. 8, No. 3-4, 04.2014, p. 168-177.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

AU - Poulsen, Ebbe Toftgaard

AU - Runager, Kasper

AU - Risør, Michael W

AU - Dyrlund, Thomas Franck

AU - Scavenius, Carsten

AU - Karring, Henrik

AU - Praetorius, Jeppe

AU - Vorum, Henrik

AU - Otzen, Daniel E

AU - Klintworth, Gordon K

AU - Enghild, Jan J

PY - 2014/4

Y1 - 2014/4

N2 - In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

AB - In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

U2 - 10.1002/prca.201300058

DO - 10.1002/prca.201300058

M3 - Journal article

C2 - 24302499

SN - 1862-8346

VL - 8

SP - 168

EP - 177

JO - Proteomics - Clinical Applications

JF - Proteomics - Clinical Applications

IS - 3-4

ER -

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Abstract

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