Attività di ricerca e interessi specifici

Principali pubblicazioni del laboratorio connesse con l'attività di ricerca (dal 2000)

Romano M, Danek G, Baralle F, Mazzotti R and Filocamo M, Functional characterisation of the novel mutation IVS 8 (-11delC)(-14T->A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I, Blood Cells, Molecules and Disease, 2000, 26(): 171-176

Filocamo M, Bonuccelli G, Mazzotti R, Giona F and Gatti R, Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling, Blood cells, Molecules and Diseases, 2000, 26(4): 307-311

Tessitore A, Villani GRD, Di Domenico C, Filocamo M, Gatti R and Di Natale P, Molecular defects in the a-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients, Human Genetics, 2000, 107(): 568-576

Dagnino F, Stroppiano M, Regis S, Bonuccelli G and Filocamo M, Evidence for a founder effect in Sicilian patients with Glycogen storage disease type II, Human Heredity, 2000, 50(): 331-333

Bonuccelli G, Filocamo M, Regis S, Corsolini F, Mazzotti R, Gatti R, A novel mutation, Y103X, and exon skipping in a patient with Hunter disease, Human Mutation, 2000, 15(4): 389

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, Journal of Neurology, 2000, 415(): 875-877

Stroppiano M, Bonuccelli G, Corsolini F and Filocamo M, Aberrant splicing at catalytic site environment as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT>GC) in combination with rare IVS10 (+1 GT>CT), American Journal of Medical Genetics , 2001, 101(): 55-58

Bonuccelli G, Di Natale P, Corsolini F, Villani G and Filocamo M, The effect of four mutations on the expression of iduronate-2-sulfatase in Mucopolysaccharidosis type II, Biochimica et Biophysica Acta, 2001, 1537(3): 233-8

Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R and Gatti R, Molecular analysis of 40 Italian patients with Mucopolysaccharidosis type II: new mutations in the iduronate-2-sulfatase gene, Human Mutation, 2001, 18(): 164-165

Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M and Gatti R, Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, Prenatal Diagnosis, 2001, 21(): 668-671

Filocamo M, Regis S, Mazzotti R, Parenti G, Stroppiano M and Gatti R, A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene , Journal of Medical Genetics, 2001, 38(): 34

Arena S, Pattarozzi A, Thellung S, Villa V, Corsaro A, Massa A, Diana F, Spoto G, Forcella S, Damonte G, Filocamo M, Benatti U, Schettini G, Florio T, Nitric oxide production stimulated by the basic fibroblast growth factor requires the synthesis of ceramide, Annals of the New York Academy of Sciences, 2002, 973(): 94-104

Regis S, Dagnino F, Caroli F and Filocamo M, Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene, DNA Sequence, 2002, 13(5): 245-250

Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M, Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity, Human Genetics, 2002, 110(): 351-355

Venturi N, Rovelli A, Parini R, Menni F, Branbillasca 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, Human Mutation, 2002, 20(3): 231

Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S and Gatti R, Analysis of the Glucocerebrosidase Gene and Mutation Profile in 144 Italian Gaucher Patients, Human Mutation, 2002, 20(3): 234-5

Parini R, Dellepiane R, Marchetti L, Arena S, Filocamo M, Diagnosis at a glance, Italian Journal of Pediatrics, 2002, 28(): 188-190

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M and Gatti R, Expression Studies of Two Novel in CIS-Mutations Identified in an Intermediate Case of Hunter Syndrome, American Journal of Medical Genetics , 2003, 120A(): 84-87

Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R, Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features, American Journal of Neuroradiology, 2003, 24(3): 398-400

Concolino D, Mussari A, Filocamo M, Strisciuglio P, Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1, Clinical Genetics, 2003, 64(3): 261-2

Ricci V, Regis S, Di Duca M and Filocamo M, An Alu-mediated Rearrangement as Cause of Exon Skipping in Hunter Disease, Human Genetics, 2003, 112(): 419-425

Lucchiari S, Donati MA, Melis D, Filocamo M, Parini R, Bresolin N, Comi GP, Mutational analysis of the AGL gene: Five novelmutations in GSD III patients, Human Mutation, 2003, 22(4): 337

Mariani G, Filocamo M, Giona F, Villa G, Amendola A, Erba P, Buffoni F, Copello F, Pierini A, Minichilli F, Gatti R, Brady RO, Severity of bone marrow involvement in patients with Gaucher disease evaluated by scintigraphy with 99mTc-sestamibi, The Journal of Nuclear Medicine, 2003, 44(8): 1253-62

Florio T, Arena S, Pattarozzi A, Thellung S, Corsaro A, Villa V, Massa A, Diana F, Spoto G, Forcella S, Damonte G, Filocamo M, Benatti U, Schettini G, Basic Fibroblast Growth Factor Activates Endothelial Nitric-Oxide Synthase in CHO-K1 Cells via the Activation of Ceramide Synthesis, Molecular Pharmacology, 2003, 63(2): 297-310

Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, Van der Knaap MS and Tortori-Donati P, Leukoencephalopathy with vanishing white matter: an adult onset case, Neurology, 2003, 61(12): 1818-9

Venturi N, Parini R, Menni F, Corti P, Rovelli A, Bertagnolio B, Uziel G, Gatti R, Filocamo M, Brambillasca F, Furlan F, Donati MA, Biondi A, Goldwurm S, Mucopolysaccharidosis type I (MPS I)-genetic analysis of 38 Italian patients, Pediatric Research, 2003, 54(4):

Di Rocco M, Biancheri R, Rossi A, Filocamo M and Tortori-Donati P, Genetic disorders affecting white matter in the pediatric age, American Journal of Medical Genetics Part B (Neuropsychiatric Genetics), 2004, 129B(): 85-93

Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C and Guerrini R, Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L), Epilepsia, 2004, 45(9): 1154-1157

Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M, An unusual arylsulfatase A pseudodeficiency allele carryng a splice site mutation in a metachromatic leukodystrophy patient, European Journal of Human Genetics, 2004, 12(2): 150-4

Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M, An unusual arylsulfatase A pseudodeficiency allele carryng a splice site mutation in a metachromatic leukodystrophy patient, European Journal of Human Genetics, 2004, 12(2): 150-4

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Domenico CD, Natale PD, 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, Human Mutation, 2004, 23(6): 576-81

Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, Grossi S, Biancheri R, Mazzotti R, and Filocamo M, Screening of 25 italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1, Human Mutation, 2004, 24(1): 105

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M and Bembi B, Acid sphingomyelinase: identification of nine novel mutations among italian Niemann Pick B patients and characterization of in vivo functional in-frame start codon, Human Mutation, 2004, 24(2): 186-7

Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montano AM, Yamaguchi S, Kondo N, Orii T and Noguchi A, Mucopolysaccharidosis IV A (Morquio A): identification of novel common mutations in the N-Acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian Patients, Human Mutation, 2004, 24(2): 187-8

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C, Clinical and molecular findings in patients with giant axonal neuropathy (GAN), Neurology, 2004, 62(1): 13-6

Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C, Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy, Pathology, research and practice, 2004, 200(3): 231-40

Di Rocco M, Allegri AE, Grossi S, Filocamo M, Gaucher disease phenotype, The Journal of Pediatrics, 2004, 145(6): 860

Filocamo M, Grossi S, Stroppiano M, Tortori-Donati P, Regis S, Allegri A, Di Rocco M, Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease, American Journal of Medical Genetics Part A, 2005, 134(1): 95-6

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG, Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease, Human Mutation, 2005, 26(2): 164

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG, Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles, Human Mutation, 2005, 26(3): 282

Lualdi S, Regis S, Di Rocco M, Corsolini F, Stroppiano M, Antuzzi D, Filocamo M, Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method, Human Mutation, 2005, 25(5): 491-7

Miocic S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG, Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1, Human Mutation, 2005, 25(1): 100

Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y, Germline mutations in HRAS proto-oncogene cause Costello syndrome, Nature Genetics, 2005, 37(10): 1038-40

Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M, Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR, Neurogenetics, 2005, 6(2): 73-8

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M, Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease, Neurogenetics, 2005, 17(): 1 – 5

Di Rocco M, Rossi A, Parenti G, Allegri AE, Filocamo M, Pessagno A,Tortori-Donati P, Minetti C, Biancheri R, Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders, Neuropediatrics, 2005, 36(4): 265-9

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Pittis MG, Filocamo M, Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms, Biochimica et Biophysica Acta, 2006, 1762(4): 478-84

Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C, Musumeci O, Toscano A, Bresolin N, Comi GP, Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL, Human Mutation, 2006, 27(6): 600

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG, Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II, Human Mutation, 2006, 27(10): 999-1006

Lualdi S, Pittis MG, Regis S, Parini R, Allegri A, Furlan F, Bembi B, Filocamo M, Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts, Journal of Molecular Medicine, 2006, 84(8): 692-700

Regis S, Lualdi S, Biffi A, Sessa M, Corsolini F, Parenti G, Filocamo M, Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient, Molecular Genetics and Metabolism, 2006, 89(1 – 2): 150-5

De Biasio P, Prefumo F, Casagrande V, Stroppiano M, Venturini PL, Filocamo M, First-trimester fetal nuchal translucency and inherited metabolic disorders, Prenatal Diagnosis, 2006, 26(1): 77-80

Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T, Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis, Clinica Chimica Acta, 2007, 375(1 – 2): 136-9

Biancheri R, Rossi A, Alpigiani G, Filocamo M, Gandolfo C, Lorini R, Minetti C, Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation, European Journal of Paediatric Neurology, 2007, 11(3): 175-7

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A, GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling, Human Mutation, 2007, 28(2): 204 [Epub ahead of print]

Beesley CE, Concolino D, Filocamo M, Winchester BG, Strisciuglio P, Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID), Molecular Genetics and Metabolism, 2007, 90(1): 77-80

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G, Pharmacological Enhancement of Mutated alpha-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease, Molecular Therapy, 2007, (): [Epub ahead of print]

Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lubke T, di Natale P, Cosma MP, Ballabio A, Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome), Human Mutation, 2007, 28(5): 523 Mutation in brief #959. Online

Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M, Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis, Human Mutation, 2007, 28(5): 524 Mutation in brief #961. Online