Ontology highlight
ABSTRACT:
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
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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 |
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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]