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

doi:10.1006/jmbi.1995.0270

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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....

Topics

Actin Cytoskeleton
Amino Acid Sequence
Brefeldin A
Cells, Cultured
Cyclopentanes
Extracellular Matrix Proteins
Fibrillin-1
Fibrillins
Fibroblasts
Glycosylation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Marfan Syndrome

Microfilament Proteins

Molecular Sequence Data

Mutation

Protein Precursors

Protein Synthesis Inhibitors

Tunicamycin

Source

Open in PubMed

Identifiers

PMID: 7760331
DOI: 10.1006/jmbi.1995.0270

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7760331-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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 ↗

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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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