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86 results for Cerebroside-Sulfatase+-+genetics

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Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Author / Creator:Fumagalli, Francesca ; Calbi, Valeria ; Natali Sora, Maria Grazia ; Sessa, Maria ; Baldoli, Cristina ; Rancoita, Paola Maria V ; Ciotti, Francesca ; Sarzana, Marina ; Fraschini, Maddalena ; Zambon, Alberto Andrea ; Acquati, Serena ; Redaelli, Daniela ; Attanasio, Vanessa ; Miglietta, Simona ; De Mattia, Fabiola ; Barzaghi, Federica ; Ferrua, Francesca ; Migliavacca, Maddalena ; Tucci, Francesca ; Gallo, Vera ; Del Carro, Ubaldo ; Canale, Sabrina ; Spiga, Ivana ; Lorioli, Laura ; Recupero, Salvatore ; Fratini, Elena Sophia ; Morena, Francesco ; Silvani, Paolo ; Calvi, Maria Rosa ; Facchini, Marcella ; Locatelli, Sara ; Corti, Ambra ; Zancan, Stefano ; Antonioli, Gigliola ; Farinelli, Giada ; Gabaldo, Michela ; Garcia-Segovia, Jesus ; Schwab, Laetitia C ; Downey, Gerald F ; Filippi, Massimo ; Cicalese, Maria Pia ; Martino, Sabata ; Di Serio, Clelia ; Ciceri, Fabio ; Bernardo, Maria Ester ; Naldini, Luigi ; Biffi, Alessandra ; Aiuti, Alessandro
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2022-01, Vol.399 (10322), p.372-383
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Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Author / Creator:Biffi, Alessandra ; Montini, Eugenio ; Lorioli, Laura ; Cesani, Martina ; Fumagalli, Francesca ; Plati, Tiziana ; Baldoli, Cristina ; Martino, Sabata ; Calabria, Andrea ; Canale, Sabrina ; Benedicenti, Fabrizio ; Vallanti, Giuliana ; Biasco, Luca ; Leo, Simone ; Kabbara, Nabil ; Zanetti, Gianluigi ; Rizzo, William B. ; Mehta, Nalini A. L. ; Cicalese, Maria Pia ; Casiraghi, Miriam ; Boelens, Jaap J. ; Del Carro, Ubaldo ; Dow, David J. ; Schmidt, Manfred ; Assanelli, Andrea ; Neduva, Victor ; Di Serio, Clelia ; Stupka, Elia ; Gardner, Jason ; von Kalle, Christof ; Bordignon, Claudio ; Ciceri, Fabio ; Rovelli, Attilio ; Roncarolo, Maria Grazia ; Aiuti, Alessandro ; Sessa, Maria ; Naldini, Luigi
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2013-08, Vol.341 (6148), p.864-864
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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Author / Creator:Hong, Xinying ; Daiker, Jessica ; Sadilek, Martin ; Ruiz-Schultz, Nicole ; Kumar, Arun Babu ; Norcross, Stevie ; Dansithong, Warunee ; Suhr, Teryn ; Escolar, Maria L. ; Ronald Scott, C. ; Rohrwasser, Andreas ; Gelb, Michael H.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.555-561
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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation
Author / Creator:Ataei, Zahra ; Nouri, Zahra ; Tavakoli, Farial ; Pourreza, Mohammad Reza ; Narrei, Sina ; Tabatabaiefar, Mohammad Amin
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-02, Vol.18 (2), p.e0282304-e0282304
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A systematic review on the birth prevalence of metachromatic leukodystrophy
Author / Creator:Chang, Shun-Chiao ; Bergamasco, Aurore ; Bonnin, Mélanie ; Bisonó, Teigna Arredondo ; Moride, Yola
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.80-80, Article 80
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The Molecular Chaperone HSPA2 Plays a Key Role in Regulating the Expression of Sperm Surface Receptors That Mediate Sperm-Egg Recognition
Author / Creator:Redgrove, Kate A. ; Nixon, Brett ; Baker, Mark A. ; Hetherington, Louise ; Baker, Gordon ; Liu, De-Yi ; Aitken, R. John
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-11, Vol.7 (11), p.e50851-e50851
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Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A
Author / Creator:Miyake, Noriko ; Miyake, Koichi ; Sakai, Atsushi ; Yamamoto, Motoko ; Suzuki, Hidenori ; Shimada, Takashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-10, Vol.11 (1), p.20513-20513, Article 20513
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Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy
Author / Creator:Eichler, F. ; Sevin, Caroline ; Barth, M. ; Pang, F. ; Howie, K. ; Walz, M. ; Wilds, A. ; Calcagni, C. ; Chanson, C. ; Campbell, L.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.370-19, Article 370
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Olaparib Attenuates Demyelination and Neuroinflammation in an Organotypic Slice Culture Model of Metachromatic Leukodystrophy
Author / Creator:Mekhaeil, Marianna ; Conroy, Melissa Jane ; Dev, Kumlesh Kumar
Publisher:Cham: Elsevier Inc
Journal title:Neurotherapeutics, 2023-09, Vol.20 (5), p.1347-1368
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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
Author / Creator:Li, Taolin ; Huang, Yonglan ; Tao, Chunyan ; Yin, Xi ; Su, Xueying ; Shao, Yongxian ; Liang, Cuili ; Jiang, Minyan ; Cai, Yanna ; Lin, Yunting ; Zeng, Chunhua ; Zhao, Xiaoyuan ; Liu, Li ; Zhang, Wen
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2024-06, Vol.39 (5), p.753-762
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Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy
Author / Creator:Doerr, Jonas ; Böckenhoff, Annika ; Ewald, Benjamin ; Ladewig, Julia ; Eckhardt, Matthias ; Gieselmann, Volkmar ; Matzner, Ulrich ; Brüstle, Oliver ; Koch, Philipp
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2015-09, Vol.23 (9), p.1519-1531
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Generation of Human Induced Pluripotent Stem Cell‐Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy
Author / Creator:Meneghini, Vasco ; Frati, Giacomo ; Sala, Davide ; De Cicco, Silvia ; Luciani, Marco ; Cavazzin, Chiara ; Paulis, Marianna ; Mentzen, Wieslawa ; Morena, Francesco ; Giannelli, Serena ; Sanvito, Francesca ; Villa, Anna ; Bulfone, Alessandro ; Broccoli, Vania ; Martino, Sabata ; Gritti, Angela
Publisher:United States: Oxford University Press
Journal title:Stem cells translational medicine, 2017-02, Vol.6 (2), p.352-368
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ArticlesPeer ReviewedFull Text
Dopamine Receptors in Human Adipocytes: Expression and Functions
Author / Creator:Borcherding, Dana C. ; Hugo, Eric R. ; Idelman, Gila ; De Silva, Anuradha ; Richtand, Nathan W. ; Loftus, Jean ; Ben-Jonathan, Nira
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-09, Vol.6 (9), p.e25537-e25537
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Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe‐affected non‐human primates by intracerebral lentiviral gene therapy
Author / Creator:Meneghini, Vasco ; Lattanzi, Annalisa ; Tiradani, Luigi ; Bravo, Gabriele ; Morena, Francesco ; Sanvito, Francesca ; Calabria, Andrea ; Bringas, John ; Fisher‐Perkins, Jeanne M ; Dufour, Jason P ; Baker, Kate C ; Doglioni, Claudio ; Montini, Eugenio ; Bunnell, Bruce A ; Bankiewicz, Krystof ; Martino, Sabata ; Naldini, Luigi ; Gritti, Angela
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2016-05, Vol.8 (5), p.489-510
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Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice
Author / Creator:Biffi, Alessandra ; Capotondo, Alessia ; Fasano, Stefania ; Carro, Ubaldo del ; Marchesini, Sergio ; Azuma, Hisaya ; Malaguti, Maria Chiara ; Amadio, Stefano ; Brambilla, Riccardo ; Grompe, Markus ; Bordignon, Claudio ; Quattrini, Angelo ; Naldini, Luigi
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2006-11, Vol.116 (11), p.3070-3082
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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)
Author / Creator:Hammoud, Miloud ; Domínguez-Ruiz, María ; Assiri, Imane ; Rodrigues, Daniel ; Aboussair, Nisrine ; Lanza, Val F. ; Villarrubia, Jesús ; Colón, Cristóbal ; Fdil, Naima ; del Castillo, Francisco J.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-12, Vol.15 (12), p.1515
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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
Author / Creator:Hettiarachchi, D. ; Dissanayake, V. H. W.
Publisher:England: BioMed Central
Journal title:BMC research notes, 2019-11, Vol.12 (1), p.726-726, Article 726
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Targeted gene transfer into ependymal cells through intraventricular injection of AAV1 vector and long-term enzyme replacement via the CSF
Author / Creator:Yamazaki, Yoshiyuki ; Hirai, Yukihiko ; Miyake, Koichi ; Shimada, Takashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2014-07, Vol.4 (1), p.5506-5506, Article 5506
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Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector
Author / Creator:Hironaka, Kohei ; Yamazaki, Yoshiyuki ; Hirai, Yukihiko ; Yamamoto, Motoko ; Miyake, Noriko ; Miyake, Koichi ; Okada, Takashi ; Morita, Akio ; Shimada, Takashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-08, Vol.5 (1), p.13104-13104, Article 13104
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Gene therapy: primed for take-off
Author / Creator:Leboulch, Philippe
Publisher:England
Journal title:Nature (London), 2013-08, Vol.500 (7462), p.280-282
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Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

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Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

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A systematic review on the birth prevalence of metachromatic leukodystrophy

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The Molecular Chaperone HSPA2 Plays a Key Role in Regulating the Expression of Sperm Surface Receptors That Mediate Sperm-Egg Recognition

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Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

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Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

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Olaparib Attenuates Demyelination and Neuroinflammation in an Organotypic Slice Culture Model of Metachromatic Leukodystrophy

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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants

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Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy

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Generation of Human Induced Pluripotent Stem Cell‐Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy

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Dopamine Receptors in Human Adipocytes: Expression and Functions

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Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe‐affected non‐human primates by intracerebral lentiviral gene therapy

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Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice

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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)

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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

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Targeted gene transfer into ependymal cells through intraventricular injection of AAV1 vector and long-term enzyme replacement via the CSF

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Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector

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Gene therapy: primed for take-off

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