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 | 139 | 2016 |
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 | 116 | 2012 |
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 | 70 | 2008 |
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 | 51 | 2014 |
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 | 42 | 2016 |
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 | 37 | 2009 |
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 | 35 | 2015 |
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 | 28 | 2016 |
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 | 24 | 2019 |
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 | 23 | 2019 |
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 | 23 | 2017 |
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 | 20 | 2018 |
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 | 19 | 2012 |
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 | 18 | 2018 |
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 | 18 | 2018 |
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 | 17 | 2020 |
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 | 15 | 2021 |
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 | 15 | 2019 |
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 | 14 | 2019 |
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 | 13 | 2020 |