Search Results - "Sebastio, Gianfranco"

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease by Sebastio, Gianfranco, Sperandeo, Maria P., Andria, Generoso

“…Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial…”
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Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease by Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel

“…Lysinuric protein intolerance (LPI) is a rare autosomal disease caused by defective cationic amino acid (CAA) transport due to mutations in , which encodes for…”
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Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance by Sperandeo, Maria Pia, Annunziata, Patrizia, Bozzato, Andrea, Piccolo, Pasquale, Maiuri, Luigi, D'Armiento, Maria, Ballabio, Andrea, Corso, Gaetano, Andria, Generoso, Borsani, Giuseppe, Sebastio, Gianfranco

“…The solute carrier family 7A member 7 gene (SLC7A7) encodes the light chain of the heterodimeric carrier responsible for cationic amino acid (CAA) transport…”
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Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene by Sperandeo, Maria Pia, Andria, Generoso, Sebastio, Gianfranco

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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I by Melis, Daniela, MD, PhD, Pivonello, Rosario, MD, PhD, Parenti, Giancarlo, MD, Casa, Roberto Della, MD, Salerno, Mariacarolina, MD, Lombardi, Gaetano, MD, PhD, Sebastio, Gianfranco, MD, Colao, Annamaria, MD, Andria, Generoso, MD

“…Objective To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1). Study design Ten patients with GSD1a,…”
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Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene by Sperandeo, Maria Pia, Annunziata, Patrizia, Ammendola, Virginia, Fiorito, Valentina, Pepe, Antonio, Soldovieri, Maria Virginia, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco

“…Lysinuric protein intolerance (LPI) is an inherited hyperdibasic aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral…”
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Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects by Dall'Asta, V, Bussolati, O, Sala, R, Rotoli, B M, Sebastio, G, Sperandeo, M P, Andria, G, Gazzola, G C

“…In lysinuric protein intolerance (LPI), impaired transport of cationic amino acids in kidney and intestine is due to mutations of the SLC7A7 gene. To assess…”
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Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene by Sperandeo, Maria Pia, Andria, Generoso, Sebastio, Gianfranco

“…Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of…”
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The Gene Encoding a Cationic Amino Acid Transporter (SLC7A4) Maps to the Region Deleted in the Velocardiofacial Syndrome by Sperandeo, Maria Pia, Borsani, Giuseppe, Incerti, Barbara, Zollo, Massimo, Rossi, Elena, Zuffardi, Orsetta, Castaldo, Pasqualina, Taglialatela, Maurizio, Andria, Generoso, Sebastio, Gianfranco

“…By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4…”
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Genetic homogeneity of lysinuric protein intolerance by Lauteala, T, Mykkänen, J, Sperandeo, M P, Gasparini, P, Savontaus, M L, Simell, O, Andria, G, Sebastio, G, Aula, P

“…Lysinuric protein intolerance (LPI) is an autosomal recessive disorder in which transport of the cationic amino acids lysine, arginine and ornithine is…”
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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome by COOPER, Wendy N, LUHARIA, Anita, SCHOFIELD, Paul N, REIK, Wolf, MACDONALD, Fiona, MAHER, Eamonn R, EVANS, Gail A, RAZA, Hussain, HAIRE, Antonita C, GRUNDY, Richard, BOWDIN, Sarah C, RICCIO, Andrea, SEBASTIO, Gianfranco, BLIEK, Jet

“…Beckwith-Wiedemann Syndrome (BWS) results from mutations or epigenetic events involving imprinted genes at 11p15.5. Most BWS cases are sporadic and uniparental…”
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Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease: Newborn Screening and Inborn Errors of Metabolism by SEBASTIO, Gianfranco, SPERANDEO, Maria P, ANDRIA, Generoso

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Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring by Scala, Iris, Granese, Barbara, Sellitto, Maria, Salomè, Serena, Sammartino, Annalidia, Pepe, Antonio, Mastroiacovo, Pierpaolo, Sebastio, Gianfranco, Andria, Generoso

“…We present a case-control study of seven polymorphisms of six genes involved in homocysteine/folate pathway as risk factors for Down syndrome…”
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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour by Cerrato, Flavia, Sparago, Angela, Verde, Gaetano, De Crescenzo, Agostina, Citro, Valentina, Cubellis, Maria Vittoria, Rinaldi, Maria Michela, Boccuto, Luigi, Neri, Giovanni, Magnani, Cinzia, D'Angelo, Paolo, Collini, Paola, Perotti, Daniela, Sebastio, Gianfranco, Maher, Eamonn R., Riccio, Andrea

“…The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive…”
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Cystathionine ?-synthase mutations in homocystinuria by Kraus, Jan P., Jano? k, Miroslav, Ko?ich, Viktor, Mandell, Roseann, Shih, Vivian, Sperandeo, M.P., Sebastio, Gianfranco, de Franchis, Raffaella, Andria, Generoso, Kluijtmans, Leo A.J., Blom, Henk, Boers, Godfried H.J., Gordon, Ross B., Kamoun, Pierre, Tsai, Michael Y., Kruger, Warren D., Koch, Hans G., Ohura, Toshihiro, Gaustadnes, Mette

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The biosynthesis of intestinal sucrase-isomaltase in human embryo is most likely controlled at the level of transcription by Sebastio, G, Hunziker, W, O'Neill, B, Malo, C, Ménard, D, Auricchio, S, Semenza, G

“…Although sucrase-isomaltase appears in the small intestine at quite different stages of development in man as compared with most mammals, we find that in human…”
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The molecular bases of cystinuria and lysinuric protein intolerance by Palacı́n, Manuel, Borsani, Giuseppe, Sebastio, Gianfranco

“…Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric…”
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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance by Borsani, Giuseppe, Sebastio, Gianfranco, Bassi, Maria Teresa, Sperandeo, Maria Pia, Grandi, Alessandro De, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Incerti, Barbara, Pepe, Antonio, Andria, Generoso, Ballabio, Andrea

“…Lysinuric protein intolerance (LPI, MIM 222700) is an autosomal recessive multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI…”
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Cystathionine β-synthase mutations in homocystinuria by Kraus, Jan P., Janošík, Miroslav, Kožich, Viktor, Mandell, Roseann, Shih, Vivian, Sperandeo, M.P., Sebastio, Gianfranco, de Franchis, Raffaella, Andria, Generoso, Kluijtmans, Leo A.J., Blom, Henk, Boers, Godfried H.J., Gordon, Ross B., Kamoun, Pierre, Tsai, Michael Y., Kruger, Warren D., Koch, Hans G., Ohura, Toshihiro, Gaustadnes, Mette

“…The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated…”
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Growth hormone deficiency in a patient with lysinuric protein intolerance by ESPOSITO, Valentina, LETTIERO, Teresa, FECAROTTA, Simona, SEBASTIO, Gianfranco, PARENTI, Giancarlo, SALERNO, Mariacarolina

“…Lysinuric protein intolerance (LPI; MIM 222700) is a rare, autosomal recessive metabolic disorder caused by mutations in the SLC7A7 gene, which encodes the…”
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