Alessandra Ferlini

Summary

Affiliation: University of Ferrara
Country: Italy

Publications

  1. doi request reprint Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes
    A Ferlini
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Gene Ther 17:432-8. 2010
  2. pmc Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
    Elena Bassi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Via Fossato di Mortara 74, 44100 Ferrara, Italy
    J Biomed Biotechnol 2012:897076. 2012
  3. pmc The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms
    Matteo Bovolenta
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    PLoS ONE 7:e45328. 2012
  4. doi request reprint The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
    Alessandra Ferlini
    Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy
    Neuromuscul Disord 23:4-14. 2013
  5. doi request reprint Exon skipping quantification by real-time PCR
    Alessandra Ferlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    Methods Mol Biol 867:189-99. 2012
  6. pmc Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
    Alessandra Ferlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:64. 2010
  7. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
  8. doi request reprint Exon skipping-mediated dystrophin reading frame restoration for small mutations
    Pietro Spitali
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:1527-34. 2009
  9. doi request reprint Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
    Hum Gene Ther 21:1137-46. 2010
  10. pmc Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Mol Ther 17:820-7. 2009

Collaborators

Detail Information

Publications28

  1. doi request reprint Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes
    A Ferlini
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Gene Ther 17:432-8. 2010
    ....
  2. pmc Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
    Elena Bassi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Via Fossato di Mortara 74, 44100 Ferrara, Italy
    J Biomed Biotechnol 2012:897076. 2012
    ..Our data therefore demonstrate the long-term residual efficacy of this systemic low-dose treatment and confirm the protective effect nanoparticles exert on AON molecules...
  3. pmc The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms
    Matteo Bovolenta
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    PLoS ONE 7:e45328. 2012
    ....
  4. doi request reprint The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
    Alessandra Ferlini
    Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy
    Neuromuscul Disord 23:4-14. 2013
    ..Our aim is to offer an overview of the medical genetic approach on the dystrophin gene and dystrophinopathies with implications for clinical practice and therapeutic perspectives...
  5. doi request reprint Exon skipping quantification by real-time PCR
    Alessandra Ferlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    Methods Mol Biol 867:189-99. 2012
    ..We have developed a real-time PCR-based protocol that uses the probe-based approach to recognize specific sequences internal to the target exon (exon-specific real-time assay). The methods for this protocol are described in this chapter...
  6. pmc Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
    Alessandra Ferlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:64. 2010
    ....
  7. pmc Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 11:44. 2010
    ....
  8. doi request reprint Exon skipping-mediated dystrophin reading frame restoration for small mutations
    Pietro Spitali
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:1527-34. 2009
    ..This behavior may be related to the effect of the mutations on exon skipping propensity, and highlights the complexity of identifying optimal AONs for skipping exons with small mutations...
  9. doi request reprint Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
    Hum Gene Ther 21:1137-46. 2010
    ..Our results demonstrated for the first time the role of intronic splicing sequences in antisense modulation with implications in exon skipping-mediated therapeutic approaches...
  10. pmc Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
    Paola Rimessi
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Mol Ther 17:820-7. 2009
    ..This nonviral approach may valuably improve the therapeutic usage of AONs in DMD as well as the delivery of RNA molecules with many implications in both basic research and medicine...
  11. pmc Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report
    Elena Martoni
    Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 14:59. 2013
    ..Mutations within the C-terminal region of the COL6A1 gene are only detected in Ullrich/Bethlem patients on extremely rare occasions...
  12. pmc Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    Simona Brioschi
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:73. 2012
    ..Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial...
  13. pmc A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    Matteo Bovolenta
    Sezione di Genetica Medica, University of Ferrara, Italy
    BMC Genomics 9:572. 2008
    ..2 Mb DMD gene...
  14. pmc Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
    Camilla Pellegrini
    Department of Medical Science, University of Ferrara, Ferrara, Italy
    J Cell Physiol 228:1323-31. 2013
    ..The mitochondrial dysfunction occurring in DMD melanocytes could represent a promising cellular biomarker for monitoring dystrophinopathies also in response to pharmacological treatments...
  15. ncbi request reprint Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation
    Paola Rimessi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Ferrara, Italy
    Am J Med Genet A 132:391-4. 2005
    ....
  16. pmc The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy
    Marcella Neri
    Department of Experimental Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    BMC Med Genet 13:20. 2012
    ....
  17. pmc Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
    Francesca Gualandi
    Section of Medical Genetics, Department of Medical Science, University of Ferrara, 44121 Ferrara, Italy
    Hum Gene Ther 23:1313-8. 2012
    ..This novel RNA modulation approach to correcting dominant mutations may represent a therapeutic strategy potentially applicable to a great variety of mutations and diseases...
  18. pmc Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice
    Maria Sofia Falzarano
    Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy
    Biomed Res Int 2013:527418. 2013
    ..These data encourage further experiments on oral administration testing of NP and AON complexes, possibly translatable in oligoribonucleotides-mediated molecular therapies. ..
  19. doi request reprint Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy
    Elena Martoni
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Italy
    Hum Mutat 30:E662-72. 2009
    ..These findings suggest a different transcriptional efficiency of a regulatory splicing mutation compared to a genomic deletion causing a splicing defect...
  20. pmc Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results
    Luciano Merlini
    Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy
    Oxid Med Cell Longev 2011:139194. 2011
    ..These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised...
  21. doi request reprint Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
    Matteo Bovolenta
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
    Hum Mutat 33:572-81. 2012
    ..We therefore propose FluiDMD as a validated diagnostic biomarker for molecular profiling of dystrophinopathies...
  22. ncbi request reprint Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point
    Paola Rimessi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, University of Ferrara, Ferrara, Italy
    Liver Int 26:211-20. 2006
    ..RNA analysis revealed that this region is represented in all foetal/adult tissues analysed. We discussed the implications of this finding which might provide perspectives for better understanding the TTR gene expression...
  23. ncbi request reprint Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality
    Francesca Gualandi
    Sezione di Genetica Medica, Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara, Via L Borsari 46, 44100 Ferrara, Italy
    Gene 311:25-33. 2003
    ..The definition of this mechanism might open perspectives in unravelling splicing regulatory motifs and their involvement in human genetic diseases...
  24. ncbi request reprint Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis
    Paolo Prontera
    University of Ferrara, Medical genetics Unit Via Fossato di Mortara, Italy
    Prenat Diagn 26:571-6. 2006
    ..The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed...
  25. ncbi request reprint Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency
    Gaetano Vattemi
    Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
    Neurologist 18:306-9. 2012
    ..Nevertheless, calpainopathy is not always associated with mutations in the specific gene and secondary reduction in protein expression has been described...
  26. pmc Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
    Luciano Merlini
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, I 44100 Ferrara, Italy
    Proc Natl Acad Sci U S A 105:5225-9. 2008
    ....
  27. ncbi request reprint Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for duchenne muscular dystrophy
    Maria Sofia Falzarano
    1 Section of Microbiology and Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
    Nucleic Acid Ther 24:87-100. 2014
    ..This review describes the recent progress in AON conjugation with natural and synthetic delivery systems, and provides an overview of the efficacy of NP-AON complexes as an exon-skipping treatment for Duchenne muscular dystrophy. ..
  28. doi request reprint Association of CYP1B1 with hypersensitivity induced by taxane therapy in breast cancer patients
    Roberta Rizzo
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Via Fossato di Mortara, 74, 44121, Ferrara, Italy
    Breast Cancer Res Treat 124:593-8. 2010
    ..We suggest that CYP1B1 might affect taxane hypersensitivity therefore representing, if confirmed in a large cohort of patients, an exploratory hypersensitivity predictive biomarker...