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Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I
Author / Creator:Gomez-Ospina, Natalia ; Scharenberg, Samantha G. ; Mostrel, Nathalie ; Bak, Rasmus O. ; Mantri, Sruthi ; Quadros, Rolen M. ; Gurumurthy, Channabasavaiah B. ; Lee, Ciaran ; Bao, Gang ; Suarez, Carlos J. ; Khan, Shaukat ; Sawamoto, Kazuki ; Tomatsu, Shunji ; Raj, Nitin ; Attardi, Laura D. ; Aurelian, Laure ; Porteus, Matthew H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-09, Vol.10 (1), p.4045-14, Article 4045
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The natural history of MPS I: global perspectives from the MPS I Registry
Author / Creator:Beck, Michael ; Arn, Pamela ; Giugliani, Roberto ; Muenzer, Joseph ; Okuyama, Torayuki ; Taylor, John ; Fallet, Shari
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-10, Vol.16 (10), p.759-765
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Genome Editing for Mucopolysaccharidoses
Author / Creator:Poletto, Edina ; Baldo, Guilherme ; Gomez-Ospina, Natalia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-01, Vol.21 (2), p.500
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In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments
Author / Creator:Carneiro, Paola ; de Freitas, Martiela Vaz ; Matte, Ursula
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-01, Vol.17 (1), p.e0262299-e0262299
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Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I
Author / Creator:Węsierska, Magdalena ; Nowicka, Wioletta ; Kloska, Anna ; Jakóbkiewicz-Banecka, Joanna ; Malinowska, Marcelina
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2022-12, Vol.24 (1), p.534
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Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa
Author / Creator:Chkioua, Latifa ; El Fissi, Houda ; Amri, Yessine ; Sahli, Chayma ; Bouzid, Fadoua ; Boudabous, Hela ; Tbib, Neji ; Ferchichi, Salima ; Massoud, Taieb ; Alif, Najat ; Laradi, Sandrine ; Ben Abdennebi, Hassen
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2024-10, Vol.25 (1), p.948-9, Article 948
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Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I
Author / Creator:Hinderer, Christian ; Bell, Peter ; Gurda, Brittney L ; Wang, Qiang ; Louboutin, Jean-Pierre ; Zhu, Yanqing ; Bagel, Jessica ; O'Donnell, Patricia ; Sikora, Tracey ; Ruane, Therese ; Wang, Ping ; Haskins, Mark E ; Wilson, James M
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2014-12, Vol.22 (12), p.2018-2027
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Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I
Author / Creator:Penati, Rachele ; Fumagalli, Francesca ; Calbi, Valeria ; Bernardo, Maria Ester ; Aiuti, Alessandro
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.543-554
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Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates
Author / Creator:Hinderer, Christian ; Bell, Peter ; Louboutin, Jean-Pierre ; Zhu, Yanqing ; Yu, Hongwei ; Lin, Gloria ; Choa, Ruth ; Gurda, Brittney L ; Bagel, Jessica ; O'Donnell, Patricia ; Sikora, Tracey ; Ruane, Therese ; Wang, Ping ; Tarantal, Alice F ; Casal, Margret L ; Haskins, Mark E ; Wilson, James M
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2015-08, Vol.23 (8), p.1298-1307
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Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders
Author / Creator:Salvalaio, Marika ; Rigon, Laura ; Belletti, Daniela ; D’Avanzo, Francesca ; Pederzoli, Francesca ; Ruozi, Barbara ; Marin, Oriano ; Vandelli, Maria Angela ; Forni, Flavio ; Scarpa, Maurizio ; Tomanin, Rosella ; Tosi, Giovanni
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-05, Vol.11 (5), p.e0156452-e0156452
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Newborn screening of mucopolysaccharidoses: past, present, and future
Author / Creator:Arunkumar, Nivethitha ; Langan, Thomas J. ; Stapleton, Molly ; Kubaski, Francyne ; Mason, Robert W. ; Singh, Rajendra ; Kobayashi, Hironori ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, Kenji ; Orii, Tadao ; Fukao, Toshiyuki ; Tomatsu, Shunji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-07, Vol.65 (7), p.557-567
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Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice
Author / Creator:Schuh, Roselena Silvestri ; Gonzalez, Esteban Alberto ; Tavares, Angela Maria Vicente ; Seolin, Bruna Gazzi ; Elias, Lais de Souza ; Vera, Luisa Natalia Pimentel ; Kubaski, Francyne ; Poletto, Edina ; Giugliani, Roberto ; Teixeira, Helder Ferreira ; Matte, Ursula ; Baldo, Guilherme
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2020-02, Vol.27 (1-2), p.74-84
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Mapping brain networks in MPS I mice and their restoration following gene therapy
Author / Creator:Zhu, Wei ; Ou, Li ; Zhang, Lin ; Clark, Isaac H. ; Zhang, Ying ; Zhu, Xiao-Hong ; Whitley, Chester B. ; Hackett, Perry B. ; Low, Walter C. ; Chen, Wei
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-08, Vol.13 (1), p.12716-11, Article 12716
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Ataluren suppresses a premature termination codon in an MPS I-H mouse
Author / Creator:Wang, Dan ; Xue, Xiaojiao ; Gunn, Gwen ; Du, Ming ; Siddiqui, Amna ; Weetall, Marla ; Keeling, Kim M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2022-08, Vol.100 (8), p.1223-1235
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Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression
Author / Creator:Keeling, Kim M. ; Wang, Dan ; Dai, Yanying ; Murugesan, Srinivasan ; Chenna, Balachandra ; Clark, Jeremy ; Belakhov, Valery ; Kandasamy, Jeyakumar ; Velu, Sadanandan E. ; Baasov, Timor ; Bedwell, David M.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-04, Vol.8 (4), p.e60478-e60478
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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Author / Creator:Hampe, Christiane S. ; Eisengart, Julie B. ; Lund, Troy C. ; Orchard, Paul J. ; Swietlicka, Monika ; Wesley, Jacob ; McIvor, R. Scott
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2020-08, Vol.9 (8), p.1838
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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Author / Creator:Al-Sannaa, Nouriya A. ; Bay, Luisa ; Barbouth, Deborah S. ; Benhayoun, Youssef ; Goizet, Cyril ; Guelbert, Norberto ; Jones, Simon A. ; Kyosen, Sandra Obikawa ; Martins, Ana Maria ; Phornphutkul, Chanika ; Reig, Celia ; Pleat, Rebecca ; Fallet, Shari ; Ivanovska Holder, Iva
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.131-131, Article 131
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Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)
Author / Creator:Siddiqui, Amna ; Dundar, Halil ; Sharma, Jyoti ; Kaczmarczyk, Aneta ; Echols, Josh ; Dai, Yanying ; Sun, Chuanxi Richard ; Du, Ming ; Liu, Zhong ; Zhao, Rui ; Wood, Tim ; Sanders, Shalisa ; Rasmussen, Lynn ; Bostwick, James Robert ; Augelli-Szafran, Corinne ; Suto, Mark ; Rowe, Steven M. ; Bedwell, David M. ; Keeling, Kim M.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-02, Vol.24 (5), p.4521
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Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy
Author / Creator:Schuh, Roselena Silvestri ; Bidone, Juliana ; Poletto, Edina ; Pinheiro, Camila Vieira ; Pasqualim, Gabriela ; de Carvalho, Talita Giacomet ; Farinon, Mirian ; da Silva Diel, Dirnete ; Xavier, Ricardo Machado ; Baldo, Guilherme ; Matte, Ursula ; Teixeira, Helder Ferreira
Publisher:New York: Springer US
Journal title:Pharmaceutical research, 2018-11, Vol.35 (11), p.221-11, Article 221
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Author / Creator:Labrijn-Marks, Ineke ; Somers-Bolman, Galhana M. ; In ’t Groen, Stijn L. M. ; Hoogeveen-Westerveld, Marianne ; Kroos, Marian A. ; Ala-Mello, Sirpa ; Amaral, Olga ; Miranda, Clara sa ; Mavridou, Irene ; Michelakakis, Helen ; Naess, Karin ; Verheijen, Frans W. ; Hoefsloot, Lies H. ; Dijkhuizen, Trijnie ; Benjamins, Marloes ; van den Hout, Hannerieke J. M. ; van der Ploeg, Ans T. ; Pijnappel, W. W. M. Pim ; Saris, Jasper J. ; Halley, Dicky J.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.919-927
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Showing 1 to 20 of 92 results

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Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

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The natural history of MPS I: global perspectives from the MPS I Registry

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Genome Editing for Mucopolysaccharidoses

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In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments

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Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I

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Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa

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Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I

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Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I

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Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates

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Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

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Newborn screening of mucopolysaccharidoses: past, present, and future

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Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

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Mapping brain networks in MPS I mice and their restoration following gene therapy

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Ataluren suppresses a premature termination codon in an MPS I-H mouse

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Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

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Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)

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Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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