Last Updated: 09/26/2026
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Found 37 publications
AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG).
Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025
Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study.
Journal: Biomedicines
Published: July 29, 2025
PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.
Journal: Journal of translational medicine
Published: July 09, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model.
Journal: bioRxiv : the preprint server for biology
Published: July 09, 2025
AAV-based gene replacement therapy prevents and halts manifestation of abnormal neurological phenotypes in a novel mouse model of PMM2-CDG.
Journal: Gene therapy
Published: December 31, 2024
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Journal: Journal of inherited metabolic disease
Published: December 19, 2024
Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.
Journal: International journal of molecular sciences
Published: December 12, 2024
Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia.
Journal: Journal of inherited metabolic disease
Published: October 07, 2024
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).
Journal: Molecular genetics and metabolism reports
Published: December 07, 2023
Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia.
Journal: Molecular therapy. Methods & clinical development
Published: September 13, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
Journal: Translational research : the journal of laboratory and clinical medicine
Published: December 12, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Journal: Human reproduction update
Published: August 29, 2022
Last Updated: 09/26/2026