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Article

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.

Journal of molecular biology - 19 May 1995

Raghunath M, Kielty C M, Steinmann B

Abstract excerpt

We studied profibrillin-1 (proFib) synthesis and microfibril formation in cultured fibroblasts from an individual with severe Marfan syndrome harboring a premature stop codon (W2756ter) in one FBN1 allele. Rotary shadowing analysis of extracellular matrix produced by these cells revealed the presence of only a very few intact microfibrils which showed marked disorganisation within the interbeaded domains....

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Source

Identifiers

PMID: 7760331
DOI: 10.1006/jmbi.1995.0270

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.PMID 7760331Read ↗

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.Semantic proximity Read ↗

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.Semantic proximity Read ↗

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Semantic proximity Read ↗

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.Semantic proximity Read ↗

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.Semantic proximity Read ↗

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.Semantic proximity Read ↗

Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.Semantic proximity Read ↗

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.Semantic proximity Read ↗

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.Semantic proximity Read ↗

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.Semantic proximity Read ↗

Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils.Semantic proximity Read ↗

Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.Semantic proximity Read ↗

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