Výsledky vyhledávání - "Pamela Claudiani"

280. Combination of Low-Dose Gene Therapy and Monthly Enzyme Replacement Therapy Improves the Phenotype of a Mouse Model of Lysosomal Storage Disease

Autor: Pamela Claudiani, Edoardo Nusco, Marialuisa Alliegro, Alberto Auricchio, Rita Ferla

Publikováno v: Molecular Therapy. 23

Enzyme replacement therapy (ERT) is the current standard of care for Mucopolysaccharidosis type VI (MPS VI) that is caused by deficiency of arylsulfatase B (ARSB), which results in widespread accumulation and excretion of toxic glycosaminoglycans (GA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca94d44ac65bee87e30b0d8659fedde

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Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

Autor: Elena Riano, Pamela Claudiani, Gennaro Andolfi, Elena I. Rugarli, Alessia Errico

Publikováno v: Experimental Cell Research. 309:358-369

Most cases of autosomal-dominant hereditary spastic paraplegia are linked to mutations in SPG4 encoding spastin, a protein involved in microtubule dynamics and membrane trafficking. In pyramidal neurons of the motor cortex and in immortalized motor n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4992e6b4ea854b62eb3af0598924b675
https://doi.org/10.1016/j.yexcr.2005.06.009

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Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

Autor: Marilena d’Addio, Elena I. Rugarli, Alessia Errico, Pamela Claudiani

Publikováno v: Human Molecular Genetics. 13:2121-2132

Hereditary spastic paraplegia (HSP) is characterized by the specific retrograde degeneration of the longest axons in the central nervous system, the corticospinal tracts. The gene most frequently involved in autosomal dominant cases of this disease,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd78f3e5c0bde49ac4f4ce3e493854a
https://doi.org/10.1093/hmg/ddh223

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Autor: Paola Saccone, Pamela Claudiani, Elvira De Leonibus, Rita Ferla, Gabriella Cotugno, Alberto Auricchio

Publikováno v: Human gene therapy 25 (2014): 609–618. doi:10.1089/hum.2013.213
info:cnr-pdr/source/autori:Ferla, Rita; Claudiani, Pamela; Cotugno, Gabriella; Saccone, Paola; De Leonibus, Elvira; Auricchio, Alberto/titolo:Similar Therapeutic Efficacy Between a Single Administration of Gene Therapy and Multiple Administrations of Recombinant Enzyme in a Mouse Model of Lysosomal Storage Disease/doi:10.1089%2Fhum.2013.213/rivista:Human gene therapy/anno:2014/pagina_da:609/pagina_a:618/intervallo_pagine:609–618/volume:25

Enzyme replacement therapy (ERT) has become the standard of care for several lysosomal storage disorders (LSDs). Despite ERT's undisputed efficacy, the requirement for multiple and costly administrations as well as ERT's limited improvement of some L

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8279ea4aa35b1dcb5dade212c9a2578
https://pubmed.ncbi.nlm.nih.gov/24725025

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Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8

Autor: Alberto Auricchio, Roberto Calcedo, Gabriella Cotugno, Rita Ferla, Mark E. Haskins, Patricia O'Donnell, Pamela Claudiani, Ping Wang, Thomas O'Malley, James M. Wilson

Liver gene transfer with adeno-associated viral (AAV) 2/8 vectors is being considered for therapy of systemic diseases like mucopolysaccharidosis type VI (MPS VI), a lysosomal storage disease due to deficiency of arylsulfatase B (ARSB). We have previ

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http://hdl.handle.net/11588/577021

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A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells

Autor: Guglielmo Roma, Ivana Peluso, Pedro Cruz, Elia Stupka, Gilda Cobellis, Marco Sardiello, Francesco Maione, Gaetano Tripoli, Pamela Claudiani

Embryonic stem (ES) cells are pluripotent cell lines with the capacity of self-renewal and the ability to differentiate into specific cell types. We performed the first genome-wide analysis of the mouse ES cell transcriptome using ∼250,000 gene tra

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http://hdl.handle.net/11591/407172

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372. Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial

Autor: Karen Kozarsky, Simona Fecarotta, Nicola Brunetti-Pierri, Hatice Serap Sivri, Rita Ferla, Pamela Claudiani, Maria Alice Donati, Ans T. van der Ploeg, Rossella Parini, Marco Savarese, Vincenzo Nigro, Maurizio Scarpa, John J. Hopwood, Generoso Andria, Alberto Auricchio, Giancarlo Parenti, Giovanni Sorge

Publikováno v: Molecular Therapy. 23:S148

Recombinant vectors based on adeno-associated virus serotype 8 (AAV8) have been successfully used in the clinic and hold great promise for liver-directed gene therapy. Pre-existing immunity against AAV8 or the development of antibodies against the th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605a43a9131887198ea9f605b6651517
https://doi.org/10.1016/s1525-0016(16)33981-8

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[Untitled]

Autor: Maria D'Amato, Elia Stupka, Eva Kalmar, Pamela Claudiani, Remo Sanges, Ferenc Müller

Publikováno v: Genome Biology. 7:R56

Background: All vertebrates share a remarkable degree of similarity in their development as well as in the basic functions of their cells. Despite this, attempts at unearthing genome-wide regulatory elements conserved throughout the vertebrate lineag

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https://doi.org/10.1186/gb-2006-7-7-r56

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