Recombinant Expression of F9 Nonsense Mutations and Fix Pharmacokinetics in Hemophilia B

Rescue of missense and splicing mutations in Haemophilia A by a unique Exon Specific U1snRNA

The carboxyl-terminal region of human coagulation factor X as a novel naturally-occuring linker for fusion strategies

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

The chaperone-like compound sodium phenylbutyrate improves intracellular trafficking, secretion and coagulant activity of factor IX impaired by the frequent p.R294Q mutation

Readthrough-mediated functional suppression of homozygous nonsense mutations accounts for variable bleeding phenotypes in factor VII deficiency

The carboxyl-terminal region is not essential for secreted and functional levels of coagulation factor X

MOLECULAR MECHANISMS AND THERAPEUTIC APROACHES FOR RESTORATION OF mRNA TRANSCRIPTION, MATURATION AND TRANSLATION IN INHERITED COAGULATION FACTOR DEFICIENCIES

RESPONSIVENESS OF HEMOPHILIA B-CAUSING NONSENSE MUTATIONS TO RIBOSOME READTHROUGH-INDUCING DRUGS STRICTLY DEPENDS ON THE NUCLEOTIDE AND PROTEIN CONTEXT

Suppression of “leaky” nonsense mutations by ribosome readthrough accounts for residual factor IX levels in Haemophilia B patients

Coagulation factor VII variants resistant to inhibitory antibodies

A strategy with chaperone-like compounds to restore expression of factor IX variants affected by frequent missense mutations causing hemophilia B

Identification of novel mechanisms underlying functional response to drug-induced readthrough of haemophilia B nonsense mutations

An optimized in vitro expression platform identifies Haemophilia B nonsense mutations, and thus patients, eligible for therapeutic drug-induced readthrough

Exploring chaperone-like compounds as innovative therapeutic strategy for Hemophilia B

Exploring chaperone-like compounds as innovative therapeutic correction approach for factor IX missense mutations causing type I Haemophilia B

A unique exon specific U1snRNA rescues different haemophilia B - causing splicing-defective factor IX variants in mice

Correction of aberrant splicing causing haemophilia B through the combination of compensatory U1snRNAs and antisense oligonucleotides

Engineered transcription factors (TALE-TF) as potential therapeutic strategy for coagulation factor deficiencies caused by promoter mutations

A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene