Ayumu Sugiura

Tokyo, Japan

Last Updated: 09/26/2026

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Found 29 publications

Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.

Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.

Journal: HGG advances

Published: April 01, 2026

Distinct mitochondrial-derived vesicle pathways connect mitochondria with peroxisomes and lysosomes.

Distinct mitochondrial-derived vesicle pathways connect mitochondria with peroxisomes and lysosomes.

Journal: Mitochondrion

Published: March 25, 2026

Hepatoprotective Effects of Imeglimin Are Associated With Preserved Mitochondrial Bioenergetics and Reduced Oxidative Stress in a Murine Cholestasis Model.

Hepatoprotective Effects of Imeglimin Are Associated With Preserved Mitochondrial Bioenergetics and Reduced Oxidative Stress in a Murine Cholestasis Model.

Journal: Hepatology research : the official journal of the Japan Society of Hepatology

Published: January 25, 2026

Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.

Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.

Journal: Journal of clinical laboratory analysis

Published: May 27, 2025

De novo synthesis of peroxisomes: how they are born.

De novo synthesis of peroxisomes: how they are born.

Journal: Journal of biochemistry

Published: April 25, 2025

Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Journal: Neurology. Genetics

Published: January 17, 2025

Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.

Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.

Journal: Journal of human genetics

Published: December 27, 2024

Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.

Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.

Journal: Molecular genetics and metabolism

Published: December 21, 2024

Disagreement on foundational principles of biological aging.

Disagreement on foundational principles of biological aging.

Journal: PNAS nexus

Published: June 27, 2024

Compound 4f, a novel brain-penetrant reversible monoacylglycerol inhibitor, ameliorates neuroinflammation, neuronal cell loss, and cognitive impairment in mice with kainic acid-induced neurodegeneration.

Compound 4f, a novel brain-penetrant reversible monoacylglycerol inhibitor, ameliorates neuroinflammation, neuronal cell loss, and cognitive impairment in mice with kainic acid-induced neurodegeneration.

Journal: PloS one

Published: June 07, 2024

ER-mitochondria contacts mediate lipid radical transfer via RMDN3/PTPIP51 phosphorylation to reduce mitochondrial oxidative stress.

ER-mitochondria contacts mediate lipid radical transfer via RMDN3/PTPIP51 phosphorylation to reduce mitochondrial oxidative stress.

Journal: Nature communications

Published: January 04, 2024

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: November 30, 2023

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Last Updated: 09/26/2026