Eriko F Jimbo
Overview
Explore the profile of Eriko F Jimbo including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
144
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Recent Articles
1.
Ishima T, Kimura N, Kobayashi M, Watanabe C, Jimbo E, Kobayashi R, et al.
Biomolecules
. 2025 Jan;
15(1).
PMID: 39858433
Nicotinamide adenine dinucleotide (NAD) is a critical cofactor in mitochondrial energy production. The NADH/NAD ratio, reflecting the balance between NADH (reduced) and NADoxidized, is a key marker for the severity...
2.
Kobayashi M, Miyauchi A, Jimbo E, Oishi N, Aoki S, Watanabe M, et al.
Sci Rep
. 2024 May;
14(1):11561.
PMID: 38773300
Mitochondrial diseases are mainly caused by dysfunction of mitochondrial respiratory chain complexes and have a variety of genetic variants or phenotypes. There are only a few approved treatments, and fundamental...
3.
Miyauchi A, Watanabe C, Yamada N, Jimbo E, Kobayashi M, Ohishi N, et al.
Sci Rep
. 2024 Feb;
14(1):4820.
PMID: 38413694
Originally, apomorphine was a broad-spectrum dopamine agonist with an affinity for all subtypes of the Dopamine D1 receptor to the D5 receptor. We previously identified apomorphine as a potential therapeutic...
4.
Total and reduced/oxidized forms of coenzyme Q in fibroblasts of patients with mitochondrial disease
Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo E, Tokuyama T, et al.
Mol Genet Metab Rep
. 2023 Jan;
34:100951.
PMID: 36632326
Coenzyme Q (CoQ) is involved in ATP production through electron transfer in the mitochondrial respiratory chain complex. CoQ receives electrons from respiratory chain complex I and II to become the...
5.
Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo E, Saitsu H, et al.
Hum Genome Var
. 2022 Sep;
9(1):33.
PMID: 36104326
The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were...
6.
Nakamura S, Osaka H, Muramatsu S, Takino N, Ito M, Jimbo E, et al.
Gene Ther
. 2020 Oct;
28(6):329-338.
PMID: 33077933
Glucose transporter 1 deficiency syndrome (GLUT1DS) is caused by haplo-insufficiency of SLC2A1, which encodes GLUT1, resulting in impaired hexose transport into the brain. Previously, we generated a tyrosine-mutant AAV9/3 vector...
7.
Miyauchi A, Kouga T, Jimbo E, Matsuhashi T, Abe T, Yamagata T, et al.
Mitochondrion
. 2019 Jul;
49:111-120.
PMID: 31356884
Mitochondrial disease is a genetic disorder in which individuals suffer from energy insufficiency. The various clinical phenotypes of mitochondrial disease include Leigh syndrome (LS), myopathy encephalopathy lactic acidosis and stroke-like...
8.
Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo E, et al.
Brain Dev
. 2019 Feb;
41(5):465-469.
PMID: 30739820
Mutations in the mitochondrial tRNA gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We...
9.
Nakamura S, Muramatsu S, Takino N, Ito M, Jimbo E, Shimazaki K, et al.
J Gene Med
. 2018 Apr;
20(4):e3013.
PMID: 29624790
Background: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene, encoding glucose transporter type 1 (GLUT1), was expressed under the human endogenous GLUT1 promoter (AAV-GLUT1). We...
10.
Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, et al.
Brain Dev
. 2018 Mar;
40(7):587-591.
PMID: 29573842
Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with...