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Daniela Scalet

Explore the profile of Daniela Scalet including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 94
Followers 0
Related Specialties
Genetics
Molecular Biology
Biochemistry
Top 10 Co-Authors
Mirko Pinotti
Dario Balestra
Francesco Bernardi
Daniela Perrone
Stan F J van de Graaf
Franco Pagani
Silvia Zanibellato
Piter Bosma
Elena Barbon
Matteo Bovolenta
Published In
Hum Mol Genet
J Hum Genet
Biochim Biophys Acta Mol Basis Dis
Hum Mutat
Mol Ther Nucleic Acids
Affiliations
Soon will be listed here.
Recent Articles
1.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
Balestra D, Scalet D, Ferrarese M, Lombardi S, Ziliotto N, C Croes C, et al.
Int J Mol Sci . 2020 Apr; 21(6). PMID: 32244944
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)...
2.
Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs
Scalet D, Maestri I, Branchini A, Bernardi F, Pinotti M, Balestra D
Hum Mutat . 2018 Nov; 40(1):48-52. PMID: 30408273
The ability of variants of the spliceosomal U1snRNA to rescue splicing has been proven in several human disease models, but not for nucleotide changes at the conserved GT nucleotide of...
3.
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
Scalet D, Sacchetto C, Bernardi F, Pinotti M, van de Graaf S, Balestra D
J Hum Genet . 2018 Mar; 63(5):683-686. PMID: 29497141
In tyrosinaemia type 1(HT1), a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue has been reported in many patients. This aspect is generally explained by a...
4.
An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants
Balestra D, Scalet D, Pagani F, Rogalska M, Mari R, Bernardi F, et al.
Mol Ther Nucleic Acids . 2016 Oct; 5(10):e370. PMID: 27701399
In cellular models we have demonstrated that a unique U1snRNA targeting an intronic region downstream of a defective exon (Exon-specific U1snRNA, ExSpeU1) can rescue multiple exon-skipping mutations, a relevant cause...
5.
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, et al.
Biochim Biophys Acta Mol Basis Dis . 2016 Sep; 1863(1):15-20. PMID: 27639833
The c.2101A>G synonymous change (p.G674G) in the gene for ATR, a key player in the DNA-damage response, has been the first identified genetic cause of Seckel Syndrome (SS), an orphan...
6.
Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
Balestra D, Barbon E, Scalet D, Cavallari N, Perrone D, Zanibellato S, et al.
Hum Mol Genet . 2015 Jun; 24(17):4809-16. PMID: 26063760
Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here we characterize a meaningful splicing model in which numerous Hemophilia...