Výsledky vyhledávání - "Ralph Laufer"

Akademický článek

Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA

Autor: Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van derHoek, Anne E. J. Hillen, Niek P. vanTil, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van derKnaap

Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 904-917 (2023)

Abstract Objective Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease‐modifying therapy is available. The AAVance gene therapy trial

Externí odkaz: https://doaj.org/article/7b120ba2fed845d38eb844ce2a9e52f1

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Akademický článek

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates

Autor: Michaël Hocquemiller, Laura Giersch, Xin Mei, Amanda L. Gross, Ashley N. Randle, Heather L. Gray-Edwards, Judith A. Hudson, Sophia Todeasa, Lorelei Stoica, Douglas R. Martin, Miguel Sena-Esteves, Karen Aiach, Ralph Laufer

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 281-292 (2022)

GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predomina

Externí odkaz: https://doaj.org/article/157bca7427c44bc4a59c76e532caa74e

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Akademický článek

AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model

Autor: Karima Habbas, Oktay Cakil, Boglárka Zámbó, Ricardos Tabet, Fabrice Riet, Doulaye Dembele, Jean‐Louis Mandel, Michaël Hocquemiller, Ralph Laufer, Françoise Piguet, Hervé Moine

Publikováno v: EMBO Molecular Medicine, Vol 14, Iss 5, Pp 1-15 (2022)

Abstract Fragile X syndrome (FXS) is the most frequent form of familial intellectual disability. FXS results from the lack of the RNA‐binding protein FMRP and is associated with the deregulation of signaling pathways downstream of mGluRI receptors

Externí odkaz: https://doaj.org/article/f6fe6fea1bab4023b24b4f87b67b8131

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Akademický článek

AAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains

Autor: Michaël Hocquemiller, Kim M. Hemsley, Meghan L. Douglass, Sarah J. Tamang, Daniel Neumann, Barbara M. King, Helen Beard, Paul J. Trim, Leanne K. Winner, Adeline A. Lau, Marten F. Snel, Cathy Gomila, Jérôme Ausseil, Xin Mei, Laura Giersch, Mark Plavsic, Ralph Laufer

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 174-187 (2020)

Patients with mucopolysaccharidosis type IIIA (MPS IIIA) lack the lysosomal enzyme sulfamidase (SGSH), which is responsible for the degradation of heparan sulfate (HS). Build-up of undegraded HS results in severe progressive neurodegeneration for whi

Externí odkaz: https://doaj.org/article/dc201b70e27746bcae02d970deb12fca

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Akademický článek

Efficacy of PEGylated ciliary neurotrophic factor superagonist variant in diet-induced obesity mice

Autor: Maria Rosaria Battista, Antonella Grigoletto, Tommaso Tedeschini, Antonella Cellucci, Fabrizio Colaceci, Ralph Laufer, Gianfranco Pasut, Annalise Di Marco

Publikováno v: PLoS ONE, Vol 17, Iss 3 (2022)

Ciliary neurotrophic factor (CNTF) is a neurotrophic cytokine able to induce appetite reduction, weight loss and antidiabetic effects. However, its susceptibility to neutralizing anti-CNTF antibodies in patients hampered its use for treatment of huma

Externí odkaz: https://doaj.org/article/275712289d7d46749feca52a20c48f5e

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