Mattia Ferrarese
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View article: Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association Open
In hemophilia A, F8 nonsense variants, and particularly those affecting the large factor VIII (FVIII) B domain that is dispensable for coagulant activity, display lower association with replacement therapy-related anti-FVIII inhibitory ant…
View article: Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity
Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity Open
Summary The short half‐life of coagulation factor IX (FIX) for haemophilia B (HB) therapy has been prolonged through fusion with human serum albumin (HSA), which drives the neonatal Fc receptor (FcRn)‐mediated recycling of the chimera. How…
View article: An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency Open
OTC splicing mutations are generally associated with the severest and early disease onset of ornithine transcarbamylase deficiency (OTCD), the most common urea cycle disorder. Noticeably, splicing defects can be rescued by spliceosomal U1s…
View article: An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics
An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics Open
The human albumin variant E505Q/T527M/K573P improves pharmacokinetics of protein-based drugs and facilitates transport across mucosal epithelia.
View article: Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains
Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains Open
We observed a 55-year-old Italian man who presented with mucosal and cutaneous bleeding. Results of his blood analysis showed low levels of von Willebrand factor (VWF) antigen and VWF activity (both VWF ristocetin cofactor and VWF collagen…
View article: A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I Open
The elucidation of aberrant splicing mechanisms, frequently associated with disease has led to the development of RNA therapeutics based on the U1snRNA, which is involved in 5′ splice site (5′ss) recognition. Studies in cellular models hav…
View article: Translational readthrough of<i>GLA</i>nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
Translational readthrough of<i>GLA</i>nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants Open
Nonsense mutations are relatively frequent in the rare X-linked lysosomal α-galactosidase A (α-Gal) deficiency (Fabry disease; FD), but have been poorly investigated. Here, we evaluated the responsiveness of a wide panel (n = 14) of GLA pr…
View article: An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A Open
The exon recognition and removal of introns (splicing) from pre-mRNA is a crucial step in the gene expression flow. The process is very complex and therefore susceptible to derangements. Not surprisingly, a significant and still underestim…
View article: Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition Open
Introduction Inherited deficiencies in the coagulation pathway provide diversified models to investigate the molecular bases of perinatal lethality associated with null‐like variants. Differently from X‐linked haemophilias, homozygous/doub…
View article: Secretion of wild-type factor IX upon readthrough over<i>F9</i>pre-peptide nonsense mutations causing hemophilia B
Secretion of wild-type factor IX upon readthrough over<i>F9</i>pre-peptide nonsense mutations causing hemophilia B Open
Pre-peptide regions of secreted proteins display wide sequence variability, even among highly homologous proteins such as coagulation factors, and are intracellularly removed, thus potentially favoring secretion of wild-type proteins upon …
View article: Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations Open
Key Points Only a few F9 nonsense mutations are responsive to drug-induced readthrough due to specific translation and protein structural constraints. Reinsertion of the WT residue and gain-of-function effects account for functionally rele…
View article: Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics
Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics Open
Disease-causing splicing mutations can be rescued by variants of the U1 small nuclear RNA (U1snRNAs). However, the evaluation
\nof the efficacy and safety of modified U1snRNAs as therapeutic tools is limited by the availability of cellular…