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Article

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A.

Molecular medicine (Cambridge, Mass.) - 27 Jun 2026

Testa Maria Francesca, Pinotti Mirko, Branchini Alessio, Mancuso Maria Elisa, Bernardi Francesco, Balestra Dario

Abstract excerpt

BACKGROUND: Among F8 mutation types, main determinants of inhibitor development after replacement therapy in Hemophilia A (HA), nonsense mutations display wide variation in the associated risk. Translational readthrough (Rdthr) at premature termination codons (PTCs) produces traces of full-length factor VIII (FVIII) including missense and wild-type molecules (WT Rdthr), and may influence the immune response...

Read the complete abstract on PubMed

Topics

Humans
Hemophilia A
Factor VIII
Codon, Nonsense
Genotype
Protein Biosynthesis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Alleles

Blood Coagulation Factor Inhibitors

Male

Source

Open in PubMed Open full text

Identifiers

PMID: 42374266
DOI: 10.1186/s10020-026-01536-y
PMCID: PMC13576119

Genes

F8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A.PMID 42374266Read ↗

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia ASemantic proximity Read ↗

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Significance of F8 missense mutations with respect to inhibitor formation.Semantic proximity Read ↗

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