Akihiko Miyauchi
Overview
Explore the profile of Akihiko Miyauchi including associated specialties, affiliations and a list of published articles.
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25
Citations
175
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Recent Articles
1.
Nakamura Y, Shimada I, Maroofian R, Falabella M, Zaki M, Fujimoto M, et al.
Brain
. 2024 Jul;
147(11):3949-3967.
PMID: 39082157
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have...
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.
Ohori S, Miyauchi A, Osaka H, Lourenco C, Arakaki N, Sengoku T, et al.
Life Sci Alliance
. 2023 Jun;
6(8).
PMID: 37286232
We discovered biallelic intragenic structural variations (SVs) in by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient...
5.
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...
6.
Shimozawa H, Sato T, Osaka H, Takeda A, Miyauchi A, Omika N, et al.
Int Heart J
. 2022 Sep;
63(5):970-977.
PMID: 36104228
Hypertrophic cardiomyopathy is a common cardiac complication in mitochondrial disorders, and the morbidity rate in neonatal cases is up to 40%. The mortality rate within 3 months for neonatal-onset mitochondrial...
7.
Ikeda T, Kawahara Y, Miyauchi A, Niijima H, Furukawa R, Shimozawa N, et al.
JIMD Rep
. 2022 Jan;
63(1):19-24.
PMID: 35028267
Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by white matter degeneration caused by adenosine triphosphate-binding cassette subfamily D member 1 () gene mutations, which lead to an accumulation of very-long-chain...
8.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, et al.
Brain Dev
. 2021 Jun;
43(8):857-862.
PMID: 34092403
Background: The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type...
9.
Kurane K, Monden Y, Tanaka D, Gunji Y, Ikeda T, Miyauchi A, et al.
Mult Scler Relat Disord
. 2020 Jul;
45:102320.
PMID: 32622298
Intravenous corticosteroids have been regarded as the first-line therapy of anti-myelin-oligodendrocyte glycoprotein antibody (MOG-Ab)-positive acute disseminated encephalomyelitis (ADEM). While steroids are the first-choice therapy, MOG-Ab-positive ADEM has a high relapse...
10.
Yamada Y, Somiya K, Miyauchi A, Osaka H, Harashima H
Sci Rep
. 2020 May;
10(1):7511.
PMID: 32371897
We report on the validation of a mitochondrial gene therapeutic strategy using fibroblasts from a Leigh syndrome patient by the mitochondrial delivery of therapeutic mRNA. The treatment involves delivering normal...