Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B

DYT-KMT2B, also known as DYT28, is a childhood-onset hereditary dystonia caused by KMT2B mutation. The pathogenesis of DYT-KMT2B involves haploinsufficiency of KMT2B, an enzyme that catalyzes specific histone methylation (H3K4me3). Dysmorphic features in patients with DYT-KMT2B suggest that KMT2B dy...

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Veröffentlicht in:	Parkinsonism & related disorders 2024-07, Vol.124, p.107018, Article 107018
Hauptverfasser:	Sugeno, Naoto, Kumada, Satoko, Kashii, Hirofumi, Ikezawa, Jun, Kawarai, Toshitaka, Nakamura, Takaaki, Miyata, Ako, Ishiyama, Shun, Sato, Kazuki, Yoshida, Shun, Sekiguchi, Hutoshi, Hamanaka, Kohei, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi, Akagawa, Hiroyuki, Kosaki, Kenjiro, Yoshihashi, Hiroshi, Hasegawa, Takafumi, Aoki, Masashi
Format:	Artikel
Sprache:	eng
Schlagworte:	DYT-KMT2B DYT28 Epigenome Hereditary dystonia KMT2B Oral mucosa
Online-Zugang:	Volltext
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