Search Results - "Sturiale, Luisella"

Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides by Pan, Xuefang, De Britto Pará De Aragão, Camila, Velasco‐Martin, Juan P., Priestman, David A., Wu, Harry Y., Takahashi, Kohta, Yamaguchi, Kazunori, Sturiale, Luisella, Garozzo, Domenico, Platt, Frances M., Lamarche‐Vane, Nathalie, Morales, Carlos R., Miyagi, Taeko, Pshezhetsky, Alexey V.

“…ABSTRACT Gangliosides (sialylated glycolipids) play an essential role in the CNS by regulating recognition and signaling in neurons. Metabolic blocks in…”
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Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides by Pan, Xuefang, De Britto Pará De Aragão, Camila, Velasco‐Martin, Juan P., Priestman, David A., Wu, Harry Y., Takahashi, Kohta, Yamaguchi, Kazunori, Sturiale, Luisella, Garozzo, Domenico, Platt, Frances M., Lamarche‐Vane, Nathalie, Morales, Carlos R., Miyagi, Taeko, Pshezhetsky, Alexey V.

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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature by Teutonico, Federica, Volpe, Clara, Proto, Alice, Costi, Ilaria, Cavallari, Ugo, Doneda, Paola, Iascone, Maria, Sturiale, Luisella, Barone, Rita, Martinelli, Stefano, Vignoli, Aglaia

“…Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide…”
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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA by Teutonico, Federica, Volpe, Clara, Proto, Alice, Costi, Ilaria, Cavallari, Ugo, Doneda, Paola, Iascone, Maria, Sturiale, Luisella, Barone, Rita, Martinelli, Stefano, Vignoli, Aglaia

“…Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide…”
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CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder by Barone, Rita, Sturiale, Luisella, Fiumara, Agata, Palmigiano, Angelo, Bua, Rosaria O., Rizzo, Renata, Zappia, Mario, Garozzo, Domenico

“…Protein N‐glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N‐glycan) linked to a protein and it serves several functions…”
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A new mutation in COG7 extends the spectrum of COG subunit deficiencies by Zeevaert, Renate, Foulquier, François, Cheillan, David, Cloix, Isabelle, Guffon, Nathalie, Sturiale, Luisella, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak

“…Abstract We describe a patient homozygous for a novel mutation in COG7 , coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in…”
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An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia by Calvo, Pier Luigi, Spada, Marco, Rabbone, Ivana, Pinon, Michele, Porta, Francesco, Cisarò, Fabio, Reggiani, Stefania, Cefalù, Angelo B., Sturiale, Luisella, Garozzo, Domenico, Lefeber, Dirk J., Jaeken, Jaak

“…We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months,…”
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Minimal Heparin/Heparan Sulfate Sequences for Binding to Fibroblast Growth Factor-1 by Guerrini, Marco, Agulles, Teresa, Bisio, Antonella, Hricovini, Miloš, Lay, Luigi, Naggi, Annamaria, Poletti, Laura, Sturiale, Luisella, Torri, Giangiacomo, Casu, Benito

“…The glycosaminoglycans heparin and heparan sulfate (HS) bind to fibroblast growth factor FGF1 and promote its dimerization, a proposed prerequisite for binding…”
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Inhibition of B16-BL6 melanoma lung colonies by semisynthetic sulfaminoheparosan sulfates from E. coli K5 polysaccharide by Poggi, Andreina, Rossi, Cosmo, Casella, Nicola, Bruno, Cristiana, Sturiale, Luisella, Dossi, Carla, Naggi, Annamaria

“…Heparin (H), heparan sulfate (HS), and related glycosaminoglycans can inhibit cancer cell invasion, possibly due to their ability to interact with vascular…”
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