An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

Autor: Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

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 underestimated propor

Externí odkaz: https://doaj.org/article/7b9e76dac67e4b68b35686587760b010

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

Autor: Dario Balestra, Daniela Scalet, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Chrystal C. Croes, Naomi Petersen, Piter Bosma, Federico Riccardi, Franco Pagani, Mirko Pinotti, Stan F. J. van de Graaf

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 6, p 2136 (2020)

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 have demon

Externí odkaz: https://doaj.org/article/7d2b03228a504040b8b832911c05fb85

Translational readthrough at

Autor: Maria Francesca, Testa, Silvia, Lombardi, Francesco, Bernardi, Mattia, Ferrarese, Donata, Belvini, Paolo, Radossi, Giancarlo, Castaman, Mirko, Pinotti, Alessio, Branchini

Publikováno v: Haematologica.

In hemophilia A (HA), 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 antibodie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::28328bfeacc93553002716a17bd911df
https://pubmed.ncbi.nlm.nih.gov/35924581

Translational readthrough ofGLAnonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants

Autor: Francesco Bernardi, Mattia Ferrarese, Mirko Pinotti, Saverio Marchi, Silvia Lombardi, Paolo Pinton, Alessio Branchini

Publikováno v: RNA Biology. 17:254-263

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 premature t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4835108f5024101b0be9850696951f37
https://doi.org/10.1080/15476286.2019.1676115

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency

Autor: Piter J. Bosma, Nicole Ziliotto, Silvia Lombardi, Mattia Ferrarese, Naomi Petersen, Stan F.J. van de Graaf, Mirko Pinotti, Dario Balestra, Alessio Branchini

Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 22
International journal of molecular sciences, 21(22):8735, 1-9. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, Vol 21, Iss 8735, p 8735 (2020)

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 U1snRNA varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce540b2381333ca088b38a3cd2cdc4a0