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Article

Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain.

Journal of molecular biology - 13 Apr 2018

Stenvang Marcel, Schafer Nicholas P, Malmos Kirsten Gade, Pérez Adriana-Michelle Wolf, Niembro Olatz, Sormanni Pietro, Basaiawmoit Rajiv Vaid, Christiansen Gunna, Andreasen Maria, Otzen Daniel E

Abstract excerpt

Numerous mutations in the corneal protein TGFBIp lead to opaque extracellular deposits and corneal dystrophies (CDs). Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophysical and bioinformatic analyses of mutations associated with every major subtype of TGFBIp-linked CDs including lattice corneal dystrophy (LCD) and three...

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Share to Circular Dichroism
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29524512
DOI: 10.1016/j.jmb.2018.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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