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Article

Translational attenuation differentially alters the fate of disease-associated fibulin proteins.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Nov 2012

Hulleman John D, Balch William E, Kelly Jeffery W

Abstract excerpt

Mutations in fibulin proteins that cause cellular secretion deficiencies are linked to a variety of diseases, ranging from retinopathies to cutis laxa (CL). One secretion-deficient fibulin mutant, R345W fibulin-3, causes the macular dystrophy malattia leventinese by increased endoplasmic reticulum retention and/or extracellular misfolding. Herein, we report that small-molecule activation of the PERK arm of the...

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Identifiers

PMID: 22872678
DOI: 10.1096/fj.11-202861
PMCID: PMC3475254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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