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87 results for Cerebroside-Sulfatase+-+genetics

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Select record 21
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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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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Author / Creator:Narayanan, Dhanya Lakshmi ; Matta, Divya ; Gupta, Neerja ; Kabra, Madhulika ; Ranganath, Prajnya ; Aggarwal, Shagun ; Phadke, Shubha R. ; Datar, Chaitanya ; Gowrishankar, Kalpana ; Kamate, Mahesh ; Jain, Jamal Mohammed Nurul ; Dalal, Ashwin
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-04, Vol.64 (4), p.323-331
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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
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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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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.726-4, Article 726
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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, Article 13104
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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, Article 5506
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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
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Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector
Author / Creator:Miyake, N ; Miyake, K ; Asakawa, N ; Yamamoto, M ; Shimada, T
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2014-04, Vol.21 (4), p.427-433
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Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD
Author / Creator:Abir Ben Issa ; Fatma Kammoun Feki ; Marwa Ben Jdila ; Khabou, Boudour ; Bochra Ben Rhouma ; Ammar-Keskes, Leila ; Triki, Chahnez ; Fakhfakh, Faiza
Publisher:Totowa: Springer Nature B.V
Journal title:Journal of molecular neuroscience, 2018-09, Vol.66 (1), p.17-25
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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians
Author / Creator:Tang, Dave ; Fakiola, Michaela ; Syn, Genevieve ; Anderson, Denise ; Cordell, Heather J. ; Scaman, Elizabeth S. H. ; Davis, Elizabeth ; Miles, Simon J. ; McLeay, Toby ; Jamieson, Sarra E. ; Lassmann, Timo ; Blackwell, Jenefer M.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-07, Vol.8 (1), p.10912-13, Article 10912
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Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation
Author / Creator:Shahzad, Muhammad Aiman ; Khaliq, Saba ; Amar, Ali ; Mahmood, Saqib
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2017-09, Vol.63 (1), p.84-90
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Imaging of complex sulfatides SM3 and SB1a in mouse kidney using MALDI-TOF/TOF mass spectrometry
Author / Creator:Marsching, Christian ; Eckhardt, Matthias ; Gröne, Hermann-Josef ; Sandhoff, Roger ; Hopf, Carsten
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Analytical and bioanalytical chemistry, 2011-07, Vol.401 (1), p.53-64
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Developing therapeutic approaches for metachromatic leukodystrophy
Author / Creator:Maegawa, Gustavo ; Patil
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Drug design, development and therapy, 2013-01, Vol.7 (default), p.729-745
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Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Author / Creator:Antelmi, Elena ; Rizzo, Giovanni ; Fabbri, Margherita ; Capellari, Sabina ; Scaglione, Cesa ; Martinelli, Paolo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-09, Vol.261 (9), p.1803-1809
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Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
Author / Creator:Ben Halim, Nizar ; Dorboz, Imen ; Kefi, Rym ; Kharrat, Najla ; Eymard-Pierre, Eleonore ; Nagara, Majdi ; Romdhane, Lilia ; Ben Alaya-Bouafif, Nissaf ; Rebai, Ahmed ; Miladi, Najoua ; Boespflug-Tanguy, Odile ; Abdelhak, Sonia
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2016-03, Vol.37 (3), p.403-409
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Select record 40
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Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?
Author / Creator:Ługowska, Agnieszka ; Ponińska, Joanna ; Krajewski, Paweł ; Broda, Grażyna ; Płoski, Rafał
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-06, Vol.6 (6), p.e20218
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Showing 21 to 40 of 87 results

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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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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

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Dopamine Receptors in Human Adipocytes: Expression and Functions

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

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Gene therapy: primed for take-off

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Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector

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Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians

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Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation

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Imaging of complex sulfatides SM3 and SB1a in mouse kidney using MALDI-TOF/TOF mass spectrometry

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Developing therapeutic approaches for metachromatic leukodystrophy

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Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?

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Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

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Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?

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