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Biomedicina e Nutrizione |
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[indietro]Prof.ssa
Graziella Uziel Istruzione e formazione Laurea con lode in Medicina all'Università di Milano 1977 Specializzazione in Neurologia 1981 Specializzazione in Pediatria 1986 Esperienze professionali e di ricerca 1977-1980: Postdoc presso il laboratorio di Biochimica e Genetica dell'Istituto Neurologico C. Besta. Milano 1981-1982: Postdoc in Neurologia Pediatrica presso la Columbia University. New York 1983-1984: Assistente in Neurologia Infantile presso l'Istituto Neurologico C. Besta. Milano 1994-2007: Associata in Neurologia Infantile presso l'Istituto Neurologico C. Besta. Milano Ambiti di interesse Encefalopatie metaoliche ereditarie nell'infanzia Screening e terapia di disordini perossisomiali con particolare interesse per l'adrenoleucodistrofia Leucoencefalopatie nell'infanzia Encefalopatie mitocondriali e miopatie nell'infanzia Attività accademiche Dal 2003 Professore di Neurogenetica presso la Facoltà di Psicologia Clinica dell'Università degli Studi di Milano-Bicocca. Attività di ricerca Ricerca biochimica e clinica in disfunzioni lisosomiali. Ricerca biochimica e clinica in disfunzioni del metabolismo lipidico in miopatie e mitocondri, in particolare disfunzioni causate da mancata ß-ossidazione degli acidi grassi, carenza di piruvato deidrogenasi e difetti della catena respiratpria. Ricerca clinica nell'atassia ereditaria infantile. Ricerca clinica in disfunzioni perossisomiali con particolare interesse per l'adrenoleucodistrofia. Ricerca clinica in forme di leucodistrofie definite o non definite nell'infanzia. L'attività di ricerca è documentata da più di 100 pubblicazioni, inclusi articoli reperibili dalle principali banche dati. Principali pubblicazioni degli ultimi sei anni: Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol. 2007 Aug 7. Petroni A, Cappa M, Carissimi R, Blasevich M, Uziel G. Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy. J Inherit Metab Dis. 2007 Jul 3. Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R, Uziel G, Zeviani M. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain. 2007 Jul;130(Pt 7):1894-904. Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9 Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). J Inherit Metab Dis. 2007 Feb;30(1):107. Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord. 2006 Dec;16(12):814-20. Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F. Rhythmic cortical myoclonus in Niemann-Pick disease type C. Mov Disord. 2006 Sep;21(9):1453-6. Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, Uziel G. Effects of riboflavin in children with complex II deficiency. Brain Dev. 2006 Oct;28(9):576-81. Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology. 2006 Jul 25;67(2):273-9. Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Arch Neurol. 2005 Oct;62(10):1582-6. Corti P, Peters C, Balduzzi A, Bertagnolio B, Biondi A, Bugarin C, Dassi M, Furlan F, Gaipa G, Longoni D, Maglia O, Parini R, Perseghin P, Uderzo C, Uziel G, Masera G, Rovelli A. Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation. Br J Haematol. 2005 Jul;130(2):249-55. Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet. 2005 May;42(5):e28. Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. Petroni A, Cappa M, Blasevich M, Solinas M, Uziel G. New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts. Neurosci Lett. 2004 Sep 9;367(3):269-72. Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004 Jul;25(3):130-7. Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology. 2004 May 25;62(10):1882-4. Review. Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004 Jun;23(6):576-81. Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology. 2004 May 11;62(9):1509-17. Moser HW, Raymond GV, Koehler W, Sokolowski P, Hanefeld F, Korenke GC, Green A, Loes DJ, Hunneman DH, Jones RO, Lu SE, Uziel G, Giros ML, Roels F. Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials. Adv Exp Med Biol. 2003;544:369-87. Bugiani M, Moroni I, Bizzi A, Nardocci N, Bettecken T, Gartner J, Uziel G. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics. 2003 Aug;34(4):211-4. Petroni A, Blasevich M, Uziel G. Effects of the testosterone metabolite dihydrotestosterone and 5 alpha-androstan-3 alpha,17 beta-diol on very long chain fatty acid metabolism in X-adrenoleukodystrophic fibroblasts. Life Sci. 2003 Aug 8;73(12):1567-75. Gaipa G, Dassi M, Perseghin P, Venturi N, Corti P, Bonanomi S, Balduzzi A, Longoni D, Uderzo C, Biondi A, Masera G, Parini R, Bertagnolio B, Uziel G, Peters C, Rovelli A. Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases. Bone Marrow Transplant. 2003 May;31(10):857-60. Rubie C, Lichtner P, Gartner J, Siekiera M, Uziel G, Kohlmann B, Kohlschutter A, Meitinger T, Stober G, Bettecken T. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum Mutat. 2003 Jan;21(1):45-52. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002 Aug;52(2):227-31. Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S. Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. Hum Mutat. 2002 Sep;20(3):231. Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100. Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics. 2002 Apr;33(2):79-85. Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002 Mar;140(3):321-7. Savoiardo M, Zeviani M, Uziel G, Farina L. MRI in Leigh syndrome with SURF1 gene mutation. Ann Neurol. 2002 Jan;51(1):138-9. Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet. 2001 Nov;69(5):1134-40. Epub 2001 Sep 20. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413. Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Epileptic phenotypes associated with mitochondrial disorders. Neurology. 2001 May 22;56(10):1340-6. Selleri S, Torchiana E, Pareyson D, Lulli L, Bertagnolio B, Savoiardo M, Farina L, Carrara F, Filocamo M, Gatti R, Sghirlanzoni A, Uziel G, Finocchiaro G. Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. J Neurol. 2000 Nov;247(11):875-7. Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Mol Genet Metab. 2000 Nov;71(3):535-7. Gomez-Lira M, Marzari MG, Uziel G, Pignatti P, Rizzuto N, Salviati A. Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophy. J Neuroimmunol. 2000 Nov 1;111(1-2):245-7. Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet. 2000 Nov 1;9(18):2733-42. Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A. Costello syndrome: a cancer predisposing syndrome? Clin Dysmorphol. 2000 Oct;9(4):265-8. Review. Lira MG, Mottes M, Pignatti PF, Medica I, Uziel G, Cappa M, Bertini E, Rizzuto N, Salviati A. Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. Hum Mutat. 2000 Sep;16(3):271. Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 2000 Apr;21(2):103-8. Di Biase A, Salvati S, Avellino C, Cappa M, Bertini E, Moroni I, Rimoldi M, Uziel G. X-linked adrenoleukodystrophy: first report of the Italian Study Group. Ital J Neurol Sci. 1998 Oct;19(5):315-9. Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case. Neuromuscul Disord. 2000 Aug;10(6):415-8. |
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