Yasuhiko Ago

AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase; International Journal of Molecular Sciences; (2026).

Natural History of Morquio A Syndrome; Journal of Inherited Metabolic Disease; (2026).

AAV gene therapy for mucopolysaccharidoses.; Med (New York, N.Y.); (2025).

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA; International Journal of Molecular Sciences; (2025).

Glycosaminoglycans in mucopolysaccharidoses and other disorders.; Advances in clinical chemistry; (2024).

Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy; International Journal of Molecular Sciences; (2024).

Molecular Trojan Horses for treating lysosomal storage diseases.; Molecular genetics and metabolism; (2023).

Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets; International Journal of Molecular Sciences; (2022).

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy; Molecular Genetics & Genomic Medicine; (2021).

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice; Nature Communications; (2021).

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.; Diagnostics (Basel, Switzerland); (2021).

Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders.; Diagnostics (Basel, Switzerland); (2021).

In vitro functional analysis of four variants of human asparagine synthetase.; Journal of inherited metabolic disease; (2021).

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.; Molecular genetics and metabolism reports; (2021).

Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.; Journal of inherited metabolic disease; (2020).

Evading the AAV Immune Response in Mucopolysaccharidoses.; International journal of molecular sciences; (2020).

Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations; Experimental and Therapeutic Medicine; (2020).

A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.; JIMD reports; (2019).

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.; JIMD reports; (2019).

Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.; Gene; (2018).

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.; Journal of human genetics; (2018).