Proteomics

Dataset Information

0

Corneal protome of trangenic TGFBI R124H mouse model


ABSTRACT: In this study we analysed the proteome of transforming growth factor β-induced protein (TGFBIp) R124H transgenic mouse corneas in an attempt to understand the disease mechanisms leading to the granular corneal dystrophy type 2. The transgenic mouse model was generated by insertion of human TGFBI cDNA with the R124H mutation into the first exon of the mouse TGFBI DNA generating the transgenic TGFBIR124H mouse model We compared the corneal proteome of three wild-type, heterozygous, and homozygous mice of different genders, which were age-matched and analysed the proteolytic processing and relative amount of TGFBIp. No protein deposits were observed in the investigated corneas.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human) Mus Musculus (mouse)

TISSUE(S): Cornea

SUBMITTER: Marie Vestergaard Lukassen  

LAB HEAD: Jan J. Enghild

PROVIDER: PXD012902 | Pride | 2020-10-20

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
09022019_MVL_R124H_Het_1_1.raw Raw
09022019_MVL_R124H_Het_1_2.raw Raw
09022019_MVL_R124H_Het_1_3.raw Raw
09022019_MVL_R124H_Het_2_1.raw Raw
09022019_MVL_R124H_Het_2_2.raw Raw
Items per page:
1 - 5 of 20
altmetric image

Publications

Protein Analysis of the TGFBI<sup>R124H</sup> Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.

Lukassen Marie V MV   Poulsen Ebbe T ET   Donaghy Jack J   Mogensen Emilie H EH   Christie Kathleen A KA   Roshanravan Hila H   DeDioniso Larry L   Nesbit M Andrew MA   Moore Tara T   Enghild Jan J JJ  

Proteomics. Clinical applications 20200706 6


<h4>Purpose</h4>Mutations in the transforming growth factor β-induced protein (TGFBIp) are associated with TGFBI-linked corneal dystrophies, which manifests as protein deposits in the cornea. A total of 70 different disease-causing mutations have been reported so far including the common R124H substitution, which is associated with granular corneal dystrophy type 2 (GCD2). The disease mechanism of GCD2 is not known and the current treatments only offer temporary relief due to the reoccurrence of  ...[more]

Similar Datasets

2017-11-14 | PXD006494 | Pride
2015-11-18 | PXD002236 | Pride
2016-07-22 | MSV000079985 | MassIVE
2016-02-19 | PXD001997 | Pride
2022-02-28 | PXD006640 | Pride
2024-01-26 | PXD047367 | Pride
2023-05-10 | PXD038281 | Pride
2012-12-25 | E-GEOD-36229 | biostudies-arrayexpress
2011-08-28 | E-GEOD-31707 | biostudies-arrayexpress
2019-07-09 | GSE123754 | GEO