Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Autor: Májovská J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Nestrašil I; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Ahmed A; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Bondy MT; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Klempíř J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jahnová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Schneider SA; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Horáková D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krásenský J; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Nascene DR; Department of Neuroradiology, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Whitley CB; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Gene Therapy and Diagnostic Laboratory, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Jarnes JR; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Dušek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 327-339. Date of Electronic Publication: 2023 Dec 19.

Two Decades of WORLDSymposium™.

Autor: Whitley CB

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Feb; Vol. 141 (2), pp. 108107. Date of Electronic Publication: 2023 Dec 12.

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

Autor: Zhu W; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA.; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA., Ou L; Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA.; Genemagic Biosciences, Media, PA, 19063, USA., Zhang L; Division of Biostatistics, University of Minnesota, Minneapolis, MN, 55455, USA., Clark IH; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA., Zhang Y; Minnesota Supercomputing Institute, University of Minnesota, Minneapolis, MN, 55455, USA., Zhu XH; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA.; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA., Whitley CB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA., Hackett PB; Department of Genetics, Cell Biology Development, University of Minnesota, Minneapolis, MN, 55455, USA.; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA., Low WC; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA. lowwalt@umn.edu.; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA. lowwalt@umn.edu.; Department of Neurosurgery, University of Minnesota, Minneapolis, MN, 55455, USA. lowwalt@umn.edu.; Graduate Program in Neuroscience, University of Minnesota, Minneapolis, MN, 55455, USA. lowwalt@umn.edu., Chen W; Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, 55455, USA. chenx075@umn.edu.; Department of Radiology, University of Minnesota, Minneapolis, MN, 55455, USA. chenx075@umn.edu.; Biomedical Engineering Graduate Program, University of Minnesota, Minneapolis, MN, 55455, USA. chenx075@umn.edu.; Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55455, USA. chenx075@umn.edu.

Publikováno v: Scientific reports [Sci Rep] 2023 Aug 05; Vol. 13 (1), pp. 12716. Date of Electronic Publication: 2023 Aug 05.

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.

Autor: Ou L; Gene Therapy Center, Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA. ouxxx045@umn.edu., Przybilla MJ; Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, 55455, USA., Tăbăran AF; Comparative Pathology Shared Resource, University of Minnesota Masonic Cancer Center, Saint Paul, MN, 55108, USA., Overn P; Comparative Pathology Shared Resource, University of Minnesota Masonic Cancer Center, Saint Paul, MN, 55108, USA., O'Sullivan MG; Comparative Pathology Shared Resource, University of Minnesota Masonic Cancer Center, Saint Paul, MN, 55108, USA., Jiang X; Department of Medicine, Washington University School of Medicine, Saint Louis, MO, USA., Sidhu R; Department of Medicine, Washington University School of Medicine, Saint Louis, MO, USA., Kell PJ; Department of Medicine, Washington University School of Medicine, Saint Louis, MO, USA., Ory DS; Department of Medicine, Washington University School of Medicine, Saint Louis, MO, USA., Whitley CB; Gene Therapy Center, Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55455, USA.; Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, 55455, USA.

Publikováno v: Gene therapy [Gene Ther] 2020 May; Vol. 27 (5), pp. 226-236. Date of Electronic Publication: 2020 Jan 02.

Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-a-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

Autor: Whitley CB, Vijay S, Yao B, Pineda M, Parker GJM, Rojas-Caro S, Zhang X, Dai Y, Cinar A, Bubb G, Patki KC, Escolar ML

Publikováno v: MOLECULAR GENETICS AND METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Mucopolysaccharidosis IIIB is caused by a marked decrease in N-acetyl-a-d-glucosaminidase (NAGLU) enzyme activity, which leads to the accumulation of heparan sulfate in key organs, progressive brain atrophy, and neurocognitive decline. In this open-l

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