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Article

Fibrillin-1 mgΔ(lpn) Marfan syndrome mutation associates with preserved proteostasis and bypass of a protein disulfide isomerase-dependent quality checkpoint.

The international journal of biochemistry & cell biology - 1 Feb 2016

Meirelles Thayna, Araujo Thaís L S, Nolasco Patrícia, Moretti Ana I S, Guido Maria C, Debbas Victor, Pereira Lygia V, Laurindo Francisco R

Abstract excerpt

Fibrillin-1 mutations promote Marfan syndrome (MFS) via complex yet unclear pathways. The roles of endoplasmic reticulum (ER) and the major ER redox chaperone protein disulfide isomerase-A1 in the processing of normal and mutated fibrillin-1 and ensuing protein secretion and/or intracellular retention are unclear. Our results in mouse embryonic fibroblasts bearing the exon-skipping mgΔ(lox-P-neo) (mgΔ(lpn))...

Topics

Animals
Cell Line
Endoplasmic Reticulum
Fibrillin-1
Fibrillins
Gene Silencing
Homeostasis
Marfan Syndrome
Mice
Microfibrils

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Mutation

Phenotype

Protein Disulfide-Isomerases

Source

Identifiers

PMID: 26718974
DOI: 10.1016/j.biocel.2015.12.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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