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Article

4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2.

Biochemical and biophysical research communications - 2 Sept 2016

Choi Seung-Il, Lee Eunhee, Jeong Jang Bin, Akuzum Begum, Maeng Yong-Sun, Kim Tae-Im, Kim Eung Kweon

Abstract excerpt

Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. In GCD2 corneal fibroblasts, secretion of the accumulated mutant TGFBI-encoded protein (TGFBIp) is delayed via the endoplasmic reticulum (ER)/Golgi-dependent secretory pathway. However, ER stress as the pathogenic mechanism underlying GCD2 has not been fully characterized. The...

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Source

Identifiers

PMID: 27373828
DOI: 10.1016/j.bbrc.2016.06.146

Genes

TGFBI
XBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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