Stefano Regis

Summary

Affiliation: G. Gaslini Institute
Country: Italy

Publications

  1. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
  2. ncbi request reprint An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, Genova 16147, Italy
    Eur J Hum Genet 12:150-4. 2004
  3. ncbi request reprint Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome
    Verena Ricci
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini, 16147 Genoa, Italy
    Am J Med Genet A 120:84-7. 2003
  4. doi request reprint PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients
    Stefano Regis
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Biochim Biophys Acta 1792:548-54. 2009
  5. ncbi request reprint Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
    Susanna Lualdi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Largo G Gaslini, Genova 16147, Italy
    J Mol Med (Berl) 84:692-700. 2006
  6. pmc Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation
    Stefano Regis
    Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G Gaslini, Genova, Italy
    PLoS ONE 8:e73633. 2013
  7. ncbi request reprint Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Hum Genet 110:351-5. 2002
  8. ncbi request reprint Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients
    Mirella Filocamo
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Genoa, Italy
    Hum Mutat 20:234-5. 2002
  9. ncbi request reprint Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malatie Metaboliche, Istituto G Gaslini Largo G Gaslini 5, 16147 Genova, Italy
    DNA Seq 13:245-50. 2002
  10. ncbi request reprint An Alu-mediated rearrangement as cause of exon skipping in Hunter disease
    Verena Ricci
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini, 16147 Genoa, Italy
    Hum Genet 112:419-25. 2003

Collaborators

Detail Information

Publications17

  1. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  2. ncbi request reprint An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, Genova 16147, Italy
    Eur J Hum Genet 12:150-4. 2004
    ..Haplotype analysis of the unusual pd allele was performed in order to investigate its possible origin...
  3. ncbi request reprint Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome
    Verena Ricci
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini, 16147 Genoa, Italy
    Am J Med Genet A 120:84-7. 2003
    ..Finally, the knowledge of the molecular defect of the patient has enabled us to identify the carriers, providing reliable genetic counselling to the females of the family...
  4. doi request reprint PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients
    Stefano Regis
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Biochim Biophys Acta 1792:548-54. 2009
    ..Therefore, PLP1 gene duplication seems to result both in overexpression and in a shift of the PLP/DM20 splicing balance in direction of the PLP isoform...
  5. ncbi request reprint Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
    Susanna Lualdi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Largo G Gaslini, Genova 16147, Italy
    J Mol Med (Berl) 84:692-700. 2006
    ..The generation of such diverse transcripts, together with their level of expression, could contribute to the profound phenotypic variability reported in MPS II...
  6. pmc Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation
    Stefano Regis
    Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G Gaslini, Genova, Italy
    PLoS ONE 8:e73633. 2013
    ....
  7. ncbi request reprint Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Hum Genet 110:351-5. 2002
    ..This is particularly important for the alleles containing a disease-causing mutation and the pseudodeficiency mutations: in these alleles pseudodeficiency could play a role in affecting the clinical phenotype...
  8. ncbi request reprint Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients
    Mirella Filocamo
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Genoa, Italy
    Hum Mutat 20:234-5. 2002
    ..biochemical and molecular investigations for prognosis, appropriate interventive therapy and reliable genetic counseling...
  9. ncbi request reprint Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malatie Metaboliche, Istituto G Gaslini Largo G Gaslini 5, 16147 Genova, Italy
    DNA Seq 13:245-50. 2002
    ..Analysis of a panel of radiation hybrids led to the assignment of the GlcNAc-1-P transferase gene to chromosome 11, at 4.19 cR from NIB361, according to the location of the homologous sequences in the database at 11q23...
  10. ncbi request reprint An Alu-mediated rearrangement as cause of exon skipping in Hunter disease
    Verena Ricci
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini, 16147 Genoa, Italy
    Hum Genet 112:419-25. 2003
    ..We, therefore, now propose a mechanism that led to the large genomic deletion causing the production of the aberrant mRNA splicing...
  11. doi request reprint A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities
    Tiziana Bachetti
    Istituto G Gaslini, Genova, Italy
    Ann Hum Genet 74:506-15. 2010
    ..Therefore, these SNP alleles may, among others, mediate the effects of GFAP mutations, thus explaining the phenotypic heterogeneity of Alexander disease...
  12. ncbi request reprint Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
    Stefano Regis
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Neurogenetics 6:73-8. 2005
    ..The method is suitable for the identification of affected male patients and female carriers. Specific ranges are widely spaced, ensuring a correct assignment of the PLP1 gene copy number...
  13. ncbi request reprint Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
    Stefano Regis
    Diagnosi Pre Postnatale Malattie Metaboliche Laboratory IRCCS G Gaslini, Genova, Italy
    Mol Genet Metab 89:150-5. 2006
    ..Although the phenotype in this patient was not modified by the recombination, similar events could potentially yield significant clinical benefits...
  14. ncbi request reprint Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries
    Agnieszka Lugowska
    Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland
    Mol Genet Metab 86:353-9. 2005
    ..P426L ranges from 8 to 37.5%. Our study has confirmed that c.459+1G>A and p.P426L are the most frequently found MLD-causing mutations in Europe. The data about their prevalence reflect the population variability in Europe...
  15. ncbi request reprint Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene
    Monica Traverso
    Unit of Muscular and Neurodegenerative Disease, University of Genova and Institute G Gaslini, Genoa, Italy
    Biochem Biophys Res Commun 339:145-50. 2006
    ..Q-PCR is a valuable tool for independent confirmation of EPFA screening, particularly when deletions/duplications of single exons occur or for rapid identification of known mutations in at risk carriers...
  16. ncbi request reprint Long-term follow-up of children with chronic relapsing polyneuropathy
    Nina Barisic
    Department of Pediatrics, University Medical School Zagreb, Kispaticeva 12, 10000, Croatia
    Pediatr Neurol 26:293-7. 2002
    ..The significance of this difference is discussed...
  17. ncbi request reprint Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease
    Mirella Filocamo
    Am J Med Genet A 134:95-6. 2005