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Article

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.

Human molecular genetics - 1 Dec 1993

Aoyama T, Tynan K, Dietz H C, Francke U, Furthmayr H

Abstract excerpt

Dermal fibroblasts from nine Marfan syndrome patients with missense mutations in the fibrillin-1 gene (FBN1) produced nearly normal amounts of fibrillin as determined by quantitative pulse-chase experiments. However, six of the seven mutations involving substitutions of highly conserved cysteine residues exhibited lower rates of intracellular transport and secretion. This effect is likely due to improper folding,...

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Source

Identifiers

PMID: 8111384
DOI: 10.1093/hmg/2.12.2135

Genes

EGF
FBN1

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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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Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.PMID 8111384Read ↗

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Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.Semantic proximity Read ↗

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