Yasuyoshi Oka

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

Natsuki Nakamura, Yosuke Nishio, Hiromi Nyuzuki, Ai Fukushima et autres

jp (code pays fourni par la source)

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

Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga et autres

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

Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga et autres

jp, gb, us (code pays fourni par la source)

Transcription‐coupled repair – mechanisms of action, regulation, and associated human disorders

Yuka Nakazawa, Yasuyoshi Oka, Tomoko Matsunaga, Tomoo Ogi

jp (code pays fourni par la source)

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

Yasuyoshi Oka, Yuka Nakazawa, Mayuko Shimada, Tomoo Ogi

jp (code pays fourni par la source)

DPC-seq: Genome-wide mapping of DNA-protein crosslinks (DPC) induced by endogenous aldehydes

Yasuyoshi Oka, Yuka Nakazawa, Mayuko Shimada, Tomoo Ogi

jp (code pays fourni par la source)

Mitochondria-associated membrane collapse impairs TBK1-mediated proteostatic stress response in ALS

Seiji Watanabe, Yuri Murata, Yasuyoshi Oka, Kotaro Oiwa et autres

jp (code pays fourni par la source)

Lysosomal cholesterol overload in macrophages promotes liver fibrosis in a mouse model of NASH

Michiko Itoh, Atsushi Tamura, S KANAI, Miyako Tanaka et autres

jp (code pays fourni par la source)

A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review

Sho Tano, Tomomi Kotani, Masato Yoshihara, Noriyuki Nakamura et autres

jp (code pays fourni par la source)

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

Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu et autres

jp (code pays fourni par la source)

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Kohji Kato, Fuyuki Miya, Yasuyoshi Oka, Seiji Mizuno et autres

jp (code pays fourni par la source)

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

Yuka Nakazawa, Yuichiro Hara, Yasuyoshi Oka, Okiru Komine et autres

jp, nl (code pays fourni par la source)