Mayuko Shimada

Nagoya, Japan

Last Updated: 09/26/2026

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Found 17 publications

XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.

XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.

Journal: The Journal of clinical investigation
Published: September 09, 2025

Brain lipid profiles and oligodendrocyte gene expression show discordant responses to high-fat diet in Alzheimer's disease mice.

Brain lipid profiles and oligodendrocyte gene expression show discordant responses to high-fat diet in Alzheimer's disease mice.

Journal: Scientific reports
Published: July 28, 2025

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

Journal: The Journal of clinical investigation
Published: May 23, 2025

Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.

Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.

Journal: American journal of medical genetics. Part A
Published: February 15, 2025

ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice.

ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice.

Journal: Acta neuropathologica communications
Published: July 01, 2024

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.

Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair.

Journal: Nature cell biology
Published: July 23, 2023

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 26, 2023

Genetic background variation impacts microglial heterogeneity and disease progression in amyotrophic lateral sclerosis model mice.

Genetic background variation impacts microglial heterogeneity and disease progression in amyotrophic lateral sclerosis model mice.

Journal: iScience
Published: June 12, 2023

Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.

Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.

Journal: Frontiers in pediatrics
Published: September 19, 2022

Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells.

Inducing multiple nicks promotes interhomolog homologous recombination to correct heterozygous mutations in somatic cells.

Journal: Nature communications
Published: August 31, 2022

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Journal: Science advances
Published: July 08, 2020

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.

Journal: Cell
Published: July 22, 2019
Showing 1-12 of 17

Last Updated: 09/26/2026