Ago Y - Search Results

1

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Iijima H, Ago Y, Fujiki R, Takayanagi T, Kubota M. Iijima H, et al. Among authors: ago y. Mol Genet Metab Rep. 2021 Jan 10;26:100702. doi: 10.1016/j.ymgmr.2020.100702. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33489759 Free PMC article.

2

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.

Ago Y, Otsuka H, Sasai H, Abdelkreem E, Nakama M, Aoyama Y, Matsumoto H, Fujiki R, Ohara O, Akiyama K, Fukui K, Watanabe Y, Nakajima Y, Ohnishi H, Ito T, Fukao T. Ago Y, et al. Exp Ther Med. 2020 Nov;20(5):39. doi: 10.3892/etm.2020.9166. Epub 2020 Sep 1. Exp Ther Med. 2020. PMID: 32952630 Free PMC article.

3

Molecular Trojan Horses for treating lysosomal storage diseases.

Leal AF, Inci OK, Seyrantepe V, Rintz E, Celik B, Ago Y, León D, Suarez DA, Alméciga-Díaz CJ, Tomatsu S. Leal AF, et al. Among authors: ago y. Mol Genet Metab. 2023 Nov;140(3):107648. doi: 10.1016/j.ymgme.2023.107648. Epub 2023 Jun 30. Mol Genet Metab. 2023. PMID: 37598508 Review.

4

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

Ago Y, Sugie H, Fukuda T, Otsuka H, Sasai H, Nakama M, Abdelkreem E, Fukao T. Ago Y, et al. JIMD Rep. 2019 May 28;48(1):15-18. doi: 10.1002/jmd2.12041. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392108 Free PMC article.

5

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.

Chen H, Khan S, Celik B, Suzuki Y, Ago Y, Tomatsu S. Chen H, et al. Among authors: ago y. Mol Genet Genomic Med. 2021 Nov;9(11):e1806. doi: 10.1002/mgg3.1806. Epub 2021 Oct 8. Mol Genet Genomic Med. 2021. PMID: 34623762 Free PMC article.

6

Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.

Nakama M, Otsuka H, Ago Y, Sasai H, Abdelkreem E, Aoyama Y, Fukao T. Nakama M, et al. Among authors: ago y. Gene. 2018 Jul 20;664:84-89. doi: 10.1016/j.gene.2018.04.064. Epub 2018 Apr 23. Gene. 2018. PMID: 29698748

7

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E. Fukao T, et al. Among authors: ago y. J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5. J Hum Genet. 2019. PMID: 30393371 Review.

8

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.

Alijanpour M, Sasai H, Abdelkreem E, Ago Y, Soleimani S, Moslemi L, Yamaguchi S, Rezapour M, Hakimi MT, Matsumoto H, Fukao T. Alijanpour M, et al. Among authors: ago y. JIMD Rep. 2019 Mar 14;46(1):23-27. doi: 10.1002/jmd2.12022. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240151 Free PMC article.

9

Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.

Otsuka H, Kimura T, Ago Y, Nakama M, Aoyama Y, Abdelkreem E, Matsumoto H, Ohnishi H, Sasai H, Osawa M, Yamaguchi S, Mitchell GA, Fukao T. Otsuka H, et al. Among authors: ago y. J Inherit Metab Dis. 2020 Sep;43(5):960-968. doi: 10.1002/jimd.12243. Epub 2020 Apr 23. J Inherit Metab Dis. 2020. PMID: 32279332

10

Evading the AAV Immune Response in Mucopolysaccharidoses.

Piechnik M, Sawamoto K, Ohnishi H, Kawamoto N, Ago Y, Tomatsu S. Piechnik M, et al. Among authors: ago y. Int J Mol Sci. 2020 May 13;21(10):3433. doi: 10.3390/ijms21103433. Int J Mol Sci. 2020. PMID: 32414007 Free PMC article. Review.

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