Validation and Optimization of a Stable Isotope-Labeled Substrate Assay for Measuring AGAT Activity.

Autor: Lee A; Department of Biochemistry, University of Toronto, Toronto, ON M5S 1A1, Canada.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Anderson L; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Tkachyova I; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Tropak MB; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Wang D; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Schulze A; Department of Biochemistry, University of Toronto, Toronto, ON M5S 1A1, Canada.; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Nov 21; Vol. 25 (23). Date of Electronic Publication: 2024 Nov 21.

Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.

Autor: Tropak MB; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Tkachyova I; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada., Gu R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Lee A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada. andreas.schulze@sickkids.ca.; Department of Pediatrics, University of Toronto, Toronto, Canada. andreas.schulze@sickkids.ca.; Department of Biochemistry, University of Toronto, Toronto, Canada. andreas.schulze@sickkids.ca.

Publikováno v: Scientific reports [Sci Rep] 2023 Dec 16; Vol. 13 (1), pp. 22392. Date of Electronic Publication: 2023 Dec 16.

Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.

Autor: Khoja S; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Lambert J; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Nitzahn M; Molecular Biology Institute, UCLA, Los Angeles, CA 90025, USA., Eliav A; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Zhang Y; Semel Institute for Neuroscience, UCLA, Los Angeles, CA 90025, USA., Tamboline M; Crump Institute for Molecular Imaging, UCLA, Los Angeles, CA 90025, USA.; Departments of Molecular and Medical Pharmacology, Universtiy of California, Los Angeles, CA 90025, USA., Le CT; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Nasser E; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Li Y; Departments of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90025, USA., Patel P; Department of Surgery, UCLA, Los Angeles, CA 90025, USA., Zhuravka I; Behavioral Testing Core, Department of Psychology, UCLA, Los Angeles, CA 90025, USA., Lueptow LM; Behavioral Testing Core, Department of Psychology, UCLA, Los Angeles, CA 90025, USA., Tkachyova I; Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Xu S; Crump Institute for Molecular Imaging, UCLA, Los Angeles, CA 90025, USA.; Departments of Molecular and Medical Pharmacology, Universtiy of California, Los Angeles, CA 90025, USA.; Jonsson Comprehensive Cancer Center at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA 90025, USA., Nissim I; Division of Metabolism and Human Genetics, Children's Hospital of Philadelphia, and the Department of Biochemistry and Biophysics, Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Schulze A; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON M5G 1X8, Canada.; Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Lipshutz GS; Department of Surgery, UCLA, Los Angeles, CA 90025, USA.; Molecular Biology Institute, UCLA, Los Angeles, CA 90025, USA.; Semel Institute for Neuroscience, UCLA, Los Angeles, CA 90025, USA.; Departments of Molecular and Medical Pharmacology, Universtiy of California, Los Angeles, CA 90025, USA.; Intellectual and Developmental Disabilities Research Center, UCLA, Los Angeles, CA 90025, USA.

Publikováno v: Molecular therapy. Methods & clinical development [Mol Ther Methods Clin Dev] 2022 Mar 28; Vol. 25, pp. 278-296. Date of Electronic Publication: 2022 Mar 28 (Print Publication: 2022).

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.

Autor: Sinha A; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Ahmed S; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., George C; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Tsagaris M; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Naufer A; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., von Both I; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Tkachyova I; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., van Eede M; Mouse Imaging Centre, Toronto Center of Phenogenomics, Toronto, Ontario, Canada., Henkelman M; Mouse Imaging Centre, Toronto Center of Phenogenomics, Toronto, Ontario, Canada.; Neurosciences and Mental Health Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Schulze A; Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Jul; Vol. 43 (4), pp. 827-842. Date of Electronic Publication: 2020 Jan 27.

NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders.

Autor: Tkachyova I; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Fan X; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., LamHonWah AM; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Fedyshyn B; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Tein I; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Mahuran DJ; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Schulze A; Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Publikováno v: PloS one [PLoS One] 2016 Sep 22; Vol. 11 (9), pp. e0162145. Date of Electronic Publication: 2016 Sep 22 (Print Publication: 2016).