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Dario Balestra
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Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death
G Morciano, C Giorgi, D Balestra, S Marchi, D Perrone, M Pinotti, P Pinton
Molecular biology of the cell 27 (1), 20-34, 2016
1392016
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
E Fernandez Alanis, M Pinotti, A Dal Mas, D Balestra, N Cavallari, ...
Human molecular genetics 21 (11), 2389-2398, 2012
1162012
U1-snRNA–mediated rescue of mRNA processing in severe factor VII deficiency
M Pinotti, L Rizzotto, D Balestra, MA Lewandowska, N Cavallari, ...
Blood, The Journal of the American Society of Hematology 111 (5), 2681-2684, 2008
702008
An engineered U1 small nuclear RNA rescues splicing‐defective coagulation F7 gene expression in mice
D Balestra, A Faella, P Margaritis, N Cavallari, F Pagani, F Bernardi, ...
Journal of Thrombosis and Haemostasis 12 (2), 177-185, 2014
512014
Molecular basis and therapeutic strategies to rescue factor IX variants that affect splicing and protein function
M Tajnik, ME Rogalska, E Bussani, E Barbon, D Balestra, M Pinotti, ...
PLoS Genetics 12 (5), e1006082, 2016
422016
Rescue of coagulation factor VII function by the U1+ 5A snRNA
M Pinotti, D Balestra, L Rizzotto, I Maestri, F Pagani, F Bernardi
Blood, The Journal of the American Society of Hematology 113 (25), 6461-6464, 2009
372009
Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
D Balestra, E Barbon, D Scalet, N Cavallari, D Perrone, S Zanibellato, ...
Human molecular genetics 24 (17), 4809-4816, 2015
352015
An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants
D Balestra, D Scalet, F Pagani, ME Rogalska, R Mari, F Bernardi, ...
Molecular Therapy-Nucleic Acids 5, 2016
282016
Splicing mutations impairing CDKL5 expression and activity can be efficiently rescued by U1snRNA-based therapy
D Balestra, D Giorgio, M Bizzotto, M Fazzari, B Ben Zeev, M Pinotti, ...
International Journal of Molecular Sciences 20 (17), 4130, 2019
242019
Disease‐causing variants of the conserved+ 2T of 5′ splice sites can be rescued by engineered U1snRNAs
D Scalet, I Maestri, A Branchini, F Bernardi, M Pinotti, D Balestra
Human Mutation 40 (1), 48-52, 2019
232019
Exploring splicing-switching molecules for seckel syndrome therapy
D Scalet, D Balestra, S Rohban, M Bovolenta, D Perrone, F Bernardi, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1863 (1), 15-20, 2017
232017
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
D Scalet, C Sacchetto, F Bernardi, M Pinotti, SFJ van de Graaf, D Balestra
Journal of human genetics 63 (5), 683-686, 2018
202018
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant
N Cavallari, D Balestra, A Branchini, I Maestri, A Chuamsunrit, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (7 …, 2012
192012
The chaperone‐like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p. R294Q mutation
S Pignani, A Todaro, M Ferrarese, S Marchi, S Lombardi, D Balestra, ...
Journal of Thrombosis and Haemostasis 16 (10), 2035-2043, 2018
182018
Secretion of wild‐type factor IX upon readthrough over F9 pre‐peptide nonsense mutations causing hemophilia B
M Ferrarese, MF Testa, D Balestra, F Bernardi, M Pinotti, A Branchini
Human Mutation 39 (5), 702-708, 2018
182018
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
P Ferraresi, D Balestra, C Guittard, D Buthiau, B Pan-Petesh, I Maestri, ...
haematologica 105 (3), 829, 2020
172020
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
S Lombardi, G Leo, S Merlin, A Follenzi, JH McVey, I Maestri, F Bernardi, ...
The American Journal of Human Genetics 108 (8), 1512-1525, 2021
152021
C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients
N Ziliotto, G Marchetti, C Scapoli, M Bovolenta, S Meneghetti, A Benazzo, ...
Frontiers in Genetics 10, 573, 2019
152019
Molecular mechanisms and determinants of innovative correction approaches in coagulation factor deficiencies
D Balestra, A Branchini
International Journal of Molecular Sciences 20 (12), 3036, 2019
142019
A compensatory U1snRNA partially rescues FAH splicing and protein expression in a splicing-defective mouse model of tyrosinemia type I
D Balestra, D Scalet, M Ferrarese, S Lombardi, N Ziliotto, C C. Croes, ...
International journal of molecular sciences 21 (6), 2136, 2020
132020
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