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pro vyhledávání: '"Sorrentino N. C."'
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency in lysosomal enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs). The current therapeutic strategies of enzyme replacement therapy and
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https://explore.openaire.eu/search/publication?articleId=od_____10495::97de108b9cc582ec870c61e8fb88685c
Akademický článek
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Autor:
Antonella Capuozzo, Sandro Montefusco, Vincenzo Cacace, Martina Sofia, Alessandra Esposito, Gennaro Napolitano, Eduardo Nusco, Elena Polishchuk, Maria Teresa Pizzo, Maria De Risi, Elvira De Leonibus, Nicolina Cristina Sorrentino, Diego Luis Medina
Publikováno v:
Mol Ther
Mucopolysaccharidosis type IIIA (MPS-IIIA) is an autosomal recessive disorder caused by mutations in SGSH involved in the degradation of heparan sulfate. MPS-IIIA presents severe neurological symptoms such as progressive developmental delay and cogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3f587c91126773c40abf800d88d65d
https://doi.org/10.1016/j.ymthe.2022.01.037
https://doi.org/10.1016/j.ymthe.2022.01.037
Autor:
Nicolina Cristina Sorrentino, Novella Tedesco, Nan Liu, Noemi Romagnoli, Susan L. Kalled, Edoardo Nusco, Maria De Risi, Elvira De Leonibus, Veronica Maffia, Vivian W. Choi, Sandra Strollo, Domenico Ventrella, Alessandro Fraldi, Vincenzo Cacace, Yan Huang
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 333-342 (2019)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Mucopolysaccharidosis type IIIA (MPS-IIIA) is a lysosomal storage disorder (LSD) caused by inherited defect of sulfamidase, a lysosomal sulfatase. MPS-IIIA is one of the most common and severe forms of LSDs with CNS involvement. Presently there is no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e189792d0f3b06f25878d75872fa95b8
https://doi.org/10.1016/j.omtm.2019.10.009
https://doi.org/10.1016/j.omtm.2019.10.009
Autor:
Edoardo Nusco, Irene Sambri, Vincenzo Cacace, Veronica Maffia, Antonio Monaco, Frank-Gerrit Klärner, Alessandro Fraldi, Yulia Ezhova, Nicolina Cristina Sorrentino, Gal Bitan, Teresa Giuliano, Elvira De Leonibus, Maria De Risi, Thomas Schrader
Publikováno v:
Molecular Therapy
Molecular therapy : the journal of the American Society of Gene Therapy, vol 28, iss 4
Molecular therapy : the journal of the American Society of Gene Therapy, vol 28, iss 4
Lysosomal storage diseases (LSDs) are inherited disorders caused by lysosomal deficiencies and characterized by dysfunction of the autophagy-lysosomal pathway (ALP) often associated with neurodegeneration. No cure is currently available to treat neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6803f3f17b23940eec5eb5563a48585c
https://doi.org/10.1016/j.ymthe.2022.10.001
https://doi.org/10.1016/j.ymthe.2022.10.001
Autor:
Nicola Volpi, Francesca Maccari, Fabio Galeotti, Veronica Mantovani, Alessandro Fraldi, Nc Sorrentino
Publikováno v:
Metabolic Brain Disease. 32:203-210
Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A) is a neurodegenerative lysosomal storage disorder caused by the deficiency of sulphamidase enzyme (SGSH) leading to accumulation of heparan sulfate (HS). We quantitatively and structurally char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::363229bd3edec76a3cda84f6311f4d9d
https://doi.org/10.1007/s11011-016-9895-x
https://doi.org/10.1007/s11011-016-9895-x
Autor:
Noemi Romagnoli, Domenico Ventrella, Alessandro Fraldi, Carlotta Lambertini, Francesca Barone, Maria Laura Bacci, Francesco Dondi, Nicolina Cristina Sorrentino, Enrico Maria Surace, Massimo Giunti
Publikováno v:
Journal of neuroscience methods. 255
Background The swine species represents a perfect model for translational medicine due to its physiological and anatomical resemblance to humans. The development of techniques for spinal catheter insertion in swine is significantly useful but, at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6017cc890433126e2f60b8ea851b535
https://pubmed.ncbi.nlm.nih.gov/26238729
https://pubmed.ncbi.nlm.nih.gov/26238729