Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lucia Bibi"'
Autor:
Carmelita Sorriso, Lucia Bibi, Gaute Martin Hansen, Hilde Monica Frostad Riise Stensland, Tommaso Beccari, Silvia Paciotti, Emanuele Persichetti, Chiara Balducci
Publikováno v:
Molecular Genetics and Metabolism. 94:476-480
β-Mannosidosis (OMIM # 248510 ) is an autosomal-recessive lysosomal storage disorder caused by deficiency of the lysosomal enzyme β-mannosidase (MANBA, E.C. 3.2.1.25). The disorder has been reported in goat, cattle and man. The human disorder is ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688af30808be5a54eca143590d9c8850
https://doi.org/10.1016/j.ymgme.2008.04.010
https://doi.org/10.1016/j.ymgme.2008.04.010
Publikováno v:
Mammalian Genome. 11:436-439
Sulphamidase is an exoglycosidase involved in the degradation of heparan sulfate. Lack of sulphamidase activity leads to the lysosomal storage disorder Mucopolysaccharidosis type IIIA (Sanfilippo type A OMIM No. 252900). At present there are no natur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726e471895cb404fdb21b717649cb955
https://doi.org/10.1007/s003350010083
https://doi.org/10.1007/s003350010083
Autor:
Chiara Balducci, Aldo Orlacchio, Lucia Bibi, Sabata Martino, Rita Roberti, Roberto Tiribuzi, Emanuele Persichetti, Thomas Berg, Silvia Paciotti, Tommaso Beccari
The lysosomal enzyme di-N-acetylchitobiase hydrolyzes N-acetylglucosamine from the reducing-end of the N,N' diacetylchitobiose core of N-linked-oligosaccharides. The presence of chitobiase in the tissues of different species is probably responsible f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5202d49ac27f280e4efff59a222c41
http://hdl.handle.net/11391/161767
http://hdl.handle.net/11391/161767
Autor:
Maria Gabriela Pittis, Lucia Bibi, Pirkko Heikinheimo, Michele Sbaragli, Chiara Balducci, Roberta Ricci, Daniela Antuzzi, Luigina Spaccini, Bruno Bembi, Tommaso Beccari, Rossella Parini
Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd0c58d2deacf15442c52380dea1b48
https://hdl.handle.net/11391/24150
https://hdl.handle.net/11391/24150
Beta-mannosidase is an exoglycosidase involved in the degradation of N-linked oligosaccharides moieties of glycoproteins. Lack of beta-mannosidase activity leads to the lysosomal disorder beta-mannosidosis (MIM 248510). We have isolated and sequenced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::229e41b144fcec926a5adda9645ed615
http://hdl.handle.net/11391/161948
http://hdl.handle.net/11391/161948
Autor:
A. Burgalossi, D. Antuzzi, Lucia Bibi, Tommaso Beccari, R. Ricci, A. Orlacchio, Egidia Costanzi
Publikováno v:
Journal of Inherited Metabolic Disease. 26:819-820
Mutation analysis performed on two Italian patients with alpha-mannosidosis allowed the identification of two new mutations, IVS20-2A>G and 322-323insA. The patients were both homozygous for these mutations. The first mutation causes skipping of exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51acf6abd429cfcfd71c98dfb8a6c86e
https://doi.org/10.1023/b:boli.0000010006.87571.48
https://doi.org/10.1023/b:boli.0000010006.87571.48