Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Paola Di Natale"'
Autor:
Gabriele Giacomo Schiattarella, Giuliana Cerulo, Valeria De Pasquale, Pasquale Cocchiaro, Orlando Paciello, Luigi Avallone, Maria Paola Belfiore, Francesca Iacobellis, Daniele Di Napoli, Fabio Magliulo, Cinzia Perrino, Bruno Trimarco, Giovanni Esposito, Paola Di Natale, Luigi Michele Pavone
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131662 (2015)
Mucopolysaccharidosis (MPS) IIIB is a lysosomal disease due to the deficiency of the enzyme α-N-acetylglucosaminidase (NAGLU) required for heparan sulfate (HS) degradation. The disease is characterized by mild somatic features and severe neurologica
Externí odkaz:
https://doaj.org/article/8f6c35909da24e70ac0a8ddd8e751900
Autor:
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia
Publikováno v:
Case Reports in Medicine, Vol 2013 (2013)
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisyste
Externí odkaz:
https://doaj.org/article/d6a17b9104ec4555813e1ac02515da83
Sulfatase activities are regulated by the interaction of the sulfatase‐modifying factor 1 with SUMF2
Autor:
Ester Zito, Alessandro Fraldi, Ida Annunziata, Paola Di Natale, Gary P. Kobinger, Andrea Ballabio, Stefano Pepe, Maria Pia Cosma
Sulphatases undergo a unique post-translational modification that converts a highly conserved cysteine located within their active site into formylglycine. This modification is necessary for the catalytic activities of the sulphatases, and it is gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::630c26d170f3eb8cff25c8336d3c6954
https://europepmc.org/articles/PMC5283596/
https://europepmc.org/articles/PMC5283596/
Publikováno v:
Journal of Inherited Metabolic Disease. 33:159-165
Mucopolysaccharidosis (MPS) IIIB is an inherited lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase (NAGLU). The disease is characterized by mild somatic features and severe neurological involvement, with high mortality
Autor:
Gianfranco Pontarelli, Giancarlo Parenti, Michelina Sibilio, Annamaria Staiano, Rossella Turco, Generoso Andria, Raffaella Vecchione, Luca Astarita, Erasmo Miele, Carla Ungaro, Paola Di Natale
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 49:477-480
Mucopolysaccharidosis (MPS) IIIB (Sanfilippo syndrome, OMIM 252920) is a lysosomal storage disorder caused by the deficiency of α-N-acetylglucosaminidase (NAGLU), a lysosomal hydrolase involved in the degradation of heparan sulphate (HS) (1). MPS II
Autor:
Valeria De Pasquale, Fabio Magliulo, Daniele Di Napoli, Maria Paola Belfiore, Bruno Trimarco, Paola Di Natale, Orlando Paciello, Luigi Avallone, Luigi Michele Pavone, Cinzia Perrino, Pasquale Cocchiaro, Gabriele G. Schiattarella, Giovanni Esposito, Francesca Iacobellis, Giuliana Cerulo
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 7, p e0131662 (2015)
PLoS ONE, Vol 10, Iss 7, p e0131662 (2015)
Mucopolysaccharidosis (MPS) IIIB is a lysosomal disease due to the deficiency of the enzyme alpha-N-acetylglucosaminidase (NAGLU) required for heparan sulfate (HS) degradation. The disease is characterized by mild somatic features and severe neurolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a887903f29dc77898c8555361e8bb596
http://hdl.handle.net/11591/430855
http://hdl.handle.net/11591/430855
Autor:
William S. Sly, Georgeta G. Trandafirescu, Roseline Froissart, Shunji Tomatsu, Alan Cooper, Paola Di Natale, Seiji Yamaguchi, Monica A. Gutierrez, Kazuko Sukegawa, Tadao Orii, Akihiko Noguchi, Irène Maire, Tatsuo Nishioka, Amparo Chabas, Andreas Gal
Publikováno v:
European Journal of Human Genetics. 14:838-845
Hunter syndrome, an X-linked disorder, results from deficiency of iduronate-2-sulfatase (IDS). Around 40% of independent point mutations at IDS were found at CpG sites as transitional events. The 15 CpG sites in the coding sequences of exons 1 and 2,
Autor:
Stefano Bruni, Giovanni V. Coppa, Paola Di Natale, Orazio Gabrielli, Gianfranco Pontarelli, Guglielmo R. D. Villani
Publikováno v:
American Journal of Medical Genetics Part A. :85-89
The Sanfilippo type A syndrome, one of the most frequent forms of mucopolysaccharidosis III, is characterized by severe mental retardation, progressive neurological degeneration, and mild somatic changes. It is due to a deficiency of heparan-N-sulfat
Autor:
Paola Di Natale, Guglielmo R. D. Villani, Antonia Follenzi, Borghina Vanacore, Carmela Di Domenico, Luigi Naldini
Publikováno v:
Biochemical Journal. 364:747-753
Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) is a lysosomal disease, due to glycosaminoglycan storage caused by mutations on the α-N-acetylglucosaminidase (NAGLU) gene. The disease is characterized by neurological dysfun