RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Malattie lisosomiali. Basi molecolari, patogenesi e approcci terapeutici innovativi.
• 2 - Patogenesi molecolare delle malattie del motoneurone come tool per l’identificazione di nuovi approcci terapeutici biomolecolari e cellulari
• 3 - Messa a punto in vivo e in vitro di nuove metodologie per lo sviluppo di procedure diagnostiche e terapeutiche di patologie tiroidee
• 4 - Intolleranza alle proteine con lisinuria: sviluppo ed analisi di un modello genetico murino di tipo condizionale e di modelli cellulari umani
• 5 - Basi genetiche e molecolari della patogenicità batterica
• 6 - Ruolo patogenetico del Brain-derived neurotrophic factor (BDNF) nell'eziologia delle patologie neurodegenerative: dai modelli animali allo studio nell'uomo.
• 7 - Patogenesi molecolare ed analisi sequenziale di interazioni cellulari e marcatori biologici di progressione di malattia e di resistenza al trattamento nella leucemia linfatica cronica
• 8 - Aspetti biochimici e genetici del disturbo autistico.
• 9 - PROGRESSIONE DA MGUS A MIELOMA MULTIPLO: PATOGENESI MOLECOLARE, IDENTIFICAZIONE DI POTENZIALI MARCATORI PROGNOSTICI E SVILUPPO PRECLINICO DI RAZIONALI APPROCCI CHEMIOPREVENTIVI
• 10 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • PEDIATRIA GENERALE E SPECIALISTICA

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF (biocides, pest repellants or attractants, or plant growth regulators, containing micro-organisms, viruses, microbial fungi, enzymes, fermentates or substances produced by or extracted from micro-organisms or animal material A01N63/00; food compositions A21, A23; medicinal preparations A61K; chemical aspects of, or use of materials for, bandages, dressings, absorbent pads or surgical articles A61L; fertilisers C05); PROPAGATING, PRESERVING OR MAINTAINING MICRO-ORGANISMS (preservation of living parts of humans or animals A01N1/02); MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (micro-biological testing media C12Q)
• HUMAN NECESSITIES
  • AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS

Classificazione geografica

• Regione: Campania

Bibliografia

Aebischer P, Pochon NA, Heyd B, et al. Gene therapy for amyotrophic lateral sclerosis (ALS) using a polymer encapsulated xenogenic cell line engineered to secrete hCNTF. Hum Gene Ther. 1996 May 1;7(7):851-60.

al-Hendy A, Hortelano G, Tannenbaum GS, Chang PL. Correction of the growth defect in dwarf mice with nonautologous microencapsulated myoblasts--an alternate approach to somatic gene therapy. Hum Gene Ther. 1995 Feb;6(2):165-75.

Bachoud-Levi AC, Deglon N, Nguyen JP, et al. Neuroprotective gene therapy for Huntington's disease using a polymer encapsulated BHK cell line engineered to secrete human CNTF. Hum Gene Ther. 2000 Aug 10;11(12):1723-9.

Biffi, A., M. De Palma, A. Quattrini, et al. 2004. Correction of Metachromatic Leukodystrophy in the Mouse Model by Transplantation of Genetically Modified Hematopoietic Stem Cells. J. Clin. Invest.
113:1118-1129.

Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med. 2006;57:283-96.

Caciotti A, Donati MA, Bardelli T, d'Azzo A, Massai G, Luciani L, Zammarchi E, Morrone A. Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients Am J Pathol. 2005a, 167:1689-98.

Cosma MP, Pepe S, Annunziata I, Newbold RF,Grompe M, Parenti G, Ballabio A. (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell, 113, 445-56.

Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet. 2002 Dec;3(12):954-66.

Di Domenico C, Villani GR, Di Napoli D, Reyero EG, Lombardo A, Naldini L, Di Natale P. Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther. 2005 Jan;16(1):81-90.

Di Natale P, Di Domenico C, Villani GR, Lombardo A, Follenzi A, Naldini L. In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors. Eur J Biochem. 2002 Jun;269(11):2764-71.

Di Natale P, Di Domenico C, Gargiulo N, Castaldo S, Gonzalez Y Reyero E, Mithbaokar P, De Felice M, Follenzi A, Naldini L, Villani GR. Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. Biochem J. 2005 Jun 1;388(Pt 2):639-46.

Dierks T, Schmidt B, Borissenko LV, et al (2003) Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 113, 435-44.

Friso A, Tomanin R, Alba S, Gasparotto N, Puicher EP, Fusco M, Hortelano G, Muenzer J, Marin O, Zacchello F, Scarpa M. Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med. 2005 Nov;7(11):1482-91.

Fu H, Muenzer J, Samulski RJ, et al. Self-complementary adeno-associated virus serotype 2 vector: global distribution and broad dispersion of AAV-mediated transgene expression in mouse brain. Mol Ther. 2003 Dec;8(6):911-7.

Garcia-Martin C, Chuah MK, Van Damme A, et al. Therapeutic levels of human factor VIII in mice implanted with encapsulated cells:potential for gene therapy of haemophilia A. J Gene Med. 2002 Mar-Apr;4(2):215-23.

Geschwind DH. DNA microarrays: translation of the genome from laboratory to clinic. Lancet Neurol. 2003 May;2(5):275-82.

Hinek, A, Zhang, S, Smith, AC, Callahan, JW: Impaired elastic-fiber assembly by fibroblasts with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67 kD spliced variant of beta-galactosidase Am J Hum Genet 2000b, 67:23-36

Hopwood JJ and Ballabio A (2001) Multiple sulfatase deficiency and the nature of the sulfatase family. In The metabolic and molecular basis of inherited disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., New York, McGraw-Hill, pp. 3725-3732.

Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001 Jan 18;344(3):182-8.

Li HH, Zhao HZ, Neufeld EF, et al. Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. J Neurosci Res. 2002 Jul 1;69(1):30-8.

Koizumi M, Nakanishi Y, Sato H, et al. Uptake across the blood-brain barrier and tissue distribution of enterostatin after peripheral administration in rats. Physiol Behav. 2002 Sep;77(1):5-10.

Jeyakumar M, Thomas R, Elliot-Smith E, et al. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain. 2003 Apr;126(Pt 4):974-87.

Minagar A, Shapshak P, Duran EM, et al. HIV-associated dementia, Alzheimer's disease, multiple sclerosis, and schizophrenia: gene expression review. J Neurol Sci. 2004 Sep 15;224(1-2):3-17.

Muenzer J, Lamsa JC, Garcia A, et al. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl. 2002;91(439):98-9

Myerowitz R, Lawson D, Mizukami H, et al. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet. 2002 May 15;11(11):1343-50.

Ohmi K, Greenberg DS, Rajavel KS, et al. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1902-7.

Pastores GM, Barnett NL. Current and emerging therapies for the lysosomal storage disorders. Expert Opin Emerg Drugs. 2005 Nov;10(4):891-902.

Peters, C., and C.G. Steward. 2003.Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 31:229-239.

Pshezhetsky AV, Ashmarina M: Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology Prog Nucleic Acid Res Mol Biol 2001, 69:81-114

Rapoport SI. Advances in osmotic opening of the blood-brain barrier to enhance CNS chemiotherapy. Expert Opin Investig Drugs. 2001 Oct;10(10):1809-18.

Ross CJ, Bastedo L, Maier SA, et al. Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. Hum Gene Ther. 2000 Oct 10;11(15):2117-27.

Schmidt B, Selmer T, Ingendoh A, von Figura K. (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell, 82, 2718.

Tomatsu S, Montano AM, Nishioka T, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) Hum Mutat. 2005, 26:500-12.

Villani GR, Follenzi A, Vanacore B, Di Domenico C, Naldini L, Di Natale P. Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer. Biochem J. 2002 Jun 15;364(Pt 3):747-53.

Wada R, Tifft CJ, Proia RL. Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):10954-9.

Weisstein JS, Delgado E, Steinbach LS, et al. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004 Jan-Feb;24(1):97-101.

Wraith JE. Lysosomal disorders. Semin Neonatol. 2002 Feb;7(1):75-83.

Parole Chiave

DEFICIT MULTIPLO DI SOLFATASI, LEUCODISTROFIA METACROMATICA, LEUCODISTROFIA GLOBOIDE, MPS I, MPS IVA, MPS IIIB, TERAPIA GENICA, TERAPIA CELLULARE