Ilona Tkachyova

Toronto, ON M5G0A4, Canada

Last Updated: 09/26/2026

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Found 12 publications

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.

Journal: International journal of molecular sciences
Published: December 23, 2025

A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone.

A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: December 07, 2025

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal: Journal of inherited metabolic disease
Published: November 18, 2025

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation.

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation.

Journal: Scientific reports
Published: December 04, 2024

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

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

Journal: International journal of molecular sciences
Published: November 01, 2024

Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency.

Targeting AGAT gene expression - a drug screening approach for the treatment of GAMT deficiency.

Journal: Expert opinion on drug discovery
Published: October 15, 2024

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

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

Journal: Scientific reports
Published: August 10, 2023

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

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

Journal: Molecular therapy. Methods & clinical development
Published: November 29, 2021

Fluorometric coupled enzyme assay for N-sulfotransferase activity of N-deacetylase/N-sulfotransferase (NDST).

Fluorometric coupled enzyme assay for N-sulfotransferase activity of N-deacetylase/N-sulfotransferase (NDST).

Journal: Glycobiology
Published: April 09, 2021

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

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

Journal: Journal of inherited metabolic disease
Published: August 01, 2019

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

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

Journal: PloS one
Published: July 06, 2016

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.

Journal: PloS one
Published: October 11, 2012
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Last Updated: 09/26/2026