Search Results - "Stroppiano, M"

Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I by Da Ros, T, Ostric, A, Andreola, F, Filocamo, M, Pietrogrande, M, Corsolini, F, Stroppiano, M, Bruni, S, Serafino, A, Fiorito, S

“…The immobilization of proteins on carbon nanotubes (CNTs) has been widely reported mainly for the preparation of sensors while the conjugation of enzymes for…”
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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II by Montalvo, A.L.E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M.G.

“…Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid α‐glucosidase (GAA) that results in impaired…”
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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease by Pittis, MG, Donnarumma, M, Montalvo, ALE, Dominissini, S, Kroos, M, Rosano, C, Stroppiano, M, Bianco, MG, Donati, MA, Parenti, G, D'Amico, A, Ciana, G, Di Rocco, M, Reuser, A, Bembi, B, Filocamo, M

“…We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and…”
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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon by Pittis, M.G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B.

“…Niemann Pick disease (NPD) is an autosomal recessive disorder due to the deficit of lysosomal acid sphingomyelinase, which results in intracellular…”
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Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1 by Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R., Filocamo, M.

“…Niemann‐Pick disease (NPD) results from the deficiency of lysosomal acid sphingomyelinase (SMPD1). To date, out of more than 70‐disease associated alleles only…”
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Plasma chitotriosidase activity in cystic fibrosis patients by Minicucci, L, De Alessandri, A, Casciaro, R, Tambroni, B, Notarnicola, S, Muraca, M, Stroppiano, M

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Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation by MIANO, M, LANINO, E, GATTI, R, MORREALE, G, FONDELLI, P, CELLE, M. E, STROPPIANO, M, CRESCENZI, F, DINI, G

“…Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha-fucosidase deficiency. We report a child with fucosidosis, second daughter of…”
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Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type Ia by Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R.

“…Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose‐6‐phosphatase (G6Pase). Recent cloning…”
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A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene by Filocamo, Mirella, Regis, Stefano, Mazzotti, Raffaella, Parenti, Giancarlo, Stroppiano, Marina, Gatti, Rosanna

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Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method by Lualdi, Susanna, Regis, Stefano, Di Rocco, Maja, Corsolini, Fabio, Stroppiano, Marina, Antuzzi, Daniela, Filocamo, Mirella

“…Various types of complex genetic rearrangements involving the iduronate‐2‐sulfatase (IDS) and its homologous pseudogene (IDS2, IDSP1) have so far been reported…”
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Cytochrome c oxidase deficiency in three patients with Leigh's disease by DI ROCCO, M, VENESELLI, E, CICCONE, M. O, TACCONE, A, STROPPIANO, M, COTTAFAVA, F

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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 by Lualdi, Susanna, Di Rocco, Maja, Corsolini, Fabio, Spada, Marco, Bembi, Bruno, Cotugno, Giovanna, Battini, Roberta, Stroppiano, Marina, Pittis, Maria Gabriela, Filocamo, Mirella

“…The present study aimed to characterize mutant alleles in Mucopolysaccharidosis II and evaluate possible reduction of mRNA amount consequent to…”
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Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L) by Filocamo, Mirella, Mazzotti, Raffaella, Stroppiano, Marina, Grossi, Serena, Dravet, Charlotte, Guerrini, Renzo

“…Purpose: Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, is characterized by genotypic and phenotypic heterogeneity. We…”
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Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II by Montalvo, A.L.E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M.G.

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First-trimester fetal nuchal translucency and inherited metabolic disorders by De Biasio, Pierangela, Prefumo, Federico, Casagrande, Valentina, Stroppiano, Marina, Venturini, Pier Luigi, Filocamo, Mirella

“…Objectives To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements. Methods The NT measurements obtained from…”
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Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity by REGIS, Stefano, CORSOLINI, Fabio, STROPPIANO, Marina, CUSANO, Roberto, FILOCAMO, Mirella

“…The occurrence of different mutations on the same arylsulfatase A allele is not uncommon, due to the high frequency of several variants, among which the…”
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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon: MUTATIONS IN BRIEF by Pittis, M.G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B.

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Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1 by Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R., Filocamo, M.

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Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease by Filocamo, Mirella, Grossi, Serena, Stroppiano, Marina, Tortori-Donati, Paolo, Regis, Stefano, Allegri, Anna, Di Rocco, Maja

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Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome by Ricci, Verena, Filocamo, Mirella, Regis, Stefano, Corsolini, Fabio, Stroppiano, Marina, Duca, Marco Di, Gatti, Rosanna

“…Hunter syndrome (Mucopolysaccharidosis type II) is a rare X‐linked recessive lysosomal storage disorder caused by the deficiency of the enzyme…”
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